W A Gahl

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops
    W A Gahl
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA
    Mol Genet Metab 71:100-20. 2000
  2. pmc Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:1022-32. 2001
  3. ncbi request reprint Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Pediatr Res 47:17-23. 2000
  4. ncbi request reprint CTNS mutations in African American patients with cystinosis
    R Kleta
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10, Bethesda, MD 20892, USA
    Mol Genet Metab 74:332-7. 2001
  5. pmc Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
    S Hazelwood
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 61:1088-94. 1997
  6. pmc AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Biol Cell 12:2075-85. 2001
  7. ncbi request reprint Carrier-mediated transport of monoiodotyrosine out of thyroid cell lysosomes
    F Tietze
    Laboratory of Molecular and Cell Biology, National Institute of Diabetes and Digestive and Kidney Disease, Bethesda, Maryland 20892
    J Biol Chem 264:4762-5. 1989
  8. pmc The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
    C Phornphutkul
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:712-21. 2001
  9. pmc Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome
    W A Gahl
    Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    J Clin Invest 81:549-60. 1988
  10. ncbi request reprint CTNS mutations in patients with cystinosis
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892 1830, USA
    Hum Mutat 14:454-8. 1999

Detail Information

Publications49

  1. ncbi request reprint Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops
    W A Gahl
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892, USA
    Mol Genet Metab 71:100-20. 2000
    ..Administration of 0.55% cysteamine eyedrops, given 6 to 12 times per day, dissolved corneal cystine crystals in 10 representative patients with nephropathic cystinosis aged 1 to 32 years within 8 to 41 months...
  2. pmc Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:1022-32. 2001
    ..These findings expand the molecular diagnosis of HPS, provide a screening method for a mutation common among Jews, and suggest that other patients with mild hypopigmentation and decreased vision should be examined for HPS...
  3. ncbi request reprint Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Pediatr Res 47:17-23. 2000
    ..Each of these mechanisms could result in minimally reduced lysosomal cystine transport in the kidneys...
  4. ncbi request reprint CTNS mutations in African American patients with cystinosis
    R Kleta
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, 10 Center Drive, Building 10, Bethesda, MD 20892, USA
    Mol Genet Metab 74:332-7. 2001
    ..We conclude that the diagnosis of cystinosis should be entertained in African Americans with symptoms of the disease, and that mutation analysis for the 57-kb deletion should be considered in this group of patients...
  5. pmc Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome
    S Hazelwood
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 61:1088-94. 1997
    ..In addition, HPS most likely displays locus heterogeneity, consistent with the existence of several mouse strains manifesting both pigment dilution and a platelet storage-pool deficiency...
  6. pmc AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Biol Cell 12:2075-85. 2001
    ..Finally, our studies demonstrate that tyrosinase and TRP-1 use different mechanisms to reach their premelanosomal destination...
  7. ncbi request reprint Carrier-mediated transport of monoiodotyrosine out of thyroid cell lysosomes
    F Tietze
    Laboratory of Molecular and Cell Biology, National Institute of Diabetes and Digestive and Kidney Disease, Bethesda, Maryland 20892
    J Biol Chem 264:4762-5. 1989
    ..The existence of a lysosomal MIT carrier in thyroid cells may explain how this product of thyroglobulin catabolism is transported to the cytosol for iodine salvage and reutilization...
  8. pmc The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
    C Phornphutkul
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:712-21. 2001
    ..These findings suggest that the CTNS promoter region should be examined in patients with cystinosis who have fewer than two coding-sequence mutations...
  9. pmc Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome
    W A Gahl
    Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    J Clin Invest 81:549-60. 1988
    ..However, its efficacy in restoring muscle carnitine to normal, and the optimal dosage regimen, have yet to be determined...
  10. ncbi request reprint CTNS mutations in patients with cystinosis
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892 1830, USA
    Hum Mutat 14:454-8. 1999
    ..In general, only certain splicing or missense mutations are associated with milder cystinosis phenotypes. Hum Mutat 14:454-458, 1999. Published 1999 Wiley-Liss, Inc...
  11. pmc Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Am J Hum Genet 69:1218-24. 2001
    ..Milder mutations in OPA3 should be sought in patients with optic atrophy with later onset, even in the absence of additional neurological abnormalities...
  12. ncbi request reprint Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 28:376-80. 2001
    ..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation...
  13. ncbi request reprint Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS)
    Y Anikster
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Genet Metab 66:111-6. 1999
    ..The addition of D17S829 primers (266 bp apart) to the PCR created a multiplex PCR system useful for diagnosing cystinosis patients homozygous and heterozygous for the 65-kb deletion...
  14. ncbi request reprint Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations
    V Shotelersuk
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Genet Metab 64:99-107. 1998
    ..To date, all mutations in HPS result in a truncated protein, suggesting that the C-terminal portion of the HPS protein is functionally important...
  15. ncbi request reprint Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes
    M Huizing
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Curr Mol Med 2:451-67. 2002
    ..Mouse and Drosophila models provide candidates for new genes causing HPS in humans. These genes will reveal the pathways by which specialized vesicles of lysosomal lineage arise within cells...
  16. ncbi request reprint Early copper therapy in classic Menkes disease patients with a novel splicing mutation
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1424, USA
    Ann Neurol 38:921-8. 1995
    ....
  17. pmc Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6
    M Huizing
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892 1851, USA
    J Med Genet 46:803-10. 2009
    ..Of the eight human HPS subtypes, only subtypes 1 through 5 are well described...
  18. ncbi request reprint Hermansky-Pudlak syndrome: models for intracellular vesicle formation
    V Shotelersuk
    Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, 20892, USA
    Mol Genet Metab 65:85-96. 1998
    ..Studies of the proteins involved in intercompartmental transport for melanosomes, platelet-dense bodies, and lysosomes should lead to a better understanding of the mechanisms of organellogenesis and to more effective therapies for HPS...
  19. ncbi request reprint Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking
    M Huizing
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA
    Thromb Haemost 86:233-45. 2001
    ..These diseases and their variants mirror a group of mouse hypopigmentation mutants. The gene productsinvolved will reveal how the melanosome, platelet dense body, and lysosome are formed and trafficked within cells...
  20. ncbi request reprint Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection
    M Huizing
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Genet 106:370-3. 2000
    ..g., exons 2-5) for mutation detection might lead to false positives for mutations, if the cDNA is contaminated with gDNA. This calls for caution when employing these screening approaches...
  21. ncbi request reprint Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, Bethesda, Maryland 20892 1830, USA
    Mol Genet Metab 74:217-25. 2001
    ..Furthermore, subtle gray exhibits a normal contingent of platelet dense bodies. Together, these data eliminate subtle gray as a murine model for HPS-3 disease and suggest that other mouse models be examined...
  22. ncbi request reprint Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR
    A E Griffin
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Clin Genet 68:23-30. 2005
    ....
  23. ncbi request reprint Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system h
    H C Andersson
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 265:10950-4. 1990
    ..It appears that a single system effects the transport of iodinated (e.g. monoiodotyrosine) and noniodinated (e.g. tyrosine) thyroglobulin catabolites into the cytosol for salvage and reutilization by FRTL-5 thyroid cells...
  24. ncbi request reprint Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33
    M Huizing
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD 20892, USA
    Gene 264:241-7. 2001
    ..This initial molecular description of these four genes is an important step towards their evaluation as candidate genes that may be involved in the pathogenesis of Hermansky-Pudlak syndrome-related diseases...
  25. pmc Craniofacial and dental findings in cystinosis
    C W Bassim
    National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
    Oral Dis 16:488-95. 2010
    ..The objective of this study was to provide the first systematic assessment of the craniofacial and dental characteristics associated with cystinosis...
  26. doi request reprint Novel mutations in the HPS1 gene among Puerto Rican patients
    C Carmona-Rivera
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Clin Genet 79:561-7. 2011
    ..M325WfsX6). These findings indicate that, among Puerto Ricans, other HPS1 mutations apart from the 16-bp duplication should be considered in the analysis of this population...
  27. ncbi request reprint Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion
    S G Kaler
    Section on Human Biochemical Genetics, NICHD, Bethesda, Maryland, 20892, USA
    Biochem Mol Med 57:37-46. 1996
    ....
  28. ncbi request reprint Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene
    E C Dell'Angelica
    Cell Biology and Metabolism Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 275:1300-6. 2000
    ....
  29. pmc CTNS mutations in an American-based population of cystinosis patients
    V Shotelersuk
    Section of Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 63:1352-62. 1998
    ..These data demonstrate the origins of CTNS mutations in America and provide a basis for possible molecular diagnosis in this population...
  30. doi request reprint Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model
    C N Madhavarao
    Department of Anatomy, Physiology and Genetics, Program in Neuroscience and Program in Molecular and Cell Biology, USUHS, 4301 Jones Bridge Road, Bethesda, MD, 20814, USA
    J Inherit Metab Dis 32:640-50. 2009
    ..Lack of GTA toxicity in two CD patients in low-dose trials, as well as in high-dose animal studies, suggests that higher, effective dose studies in human CD patients are warranted...
  31. pmc The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome
    D M Maynard
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA
    J Thromb Haemost 8:1786-96. 2010
    ..For disorders such as gray platelet syndrome (GPS), in which thrombocytopenia, enlarged platelets and a paucity of α-granules are observed, only the clinical and histologic states have been defined...
  32. ncbi request reprint High-performance liquid chromatography of lipids for the identification of human metabolic disease
    T C Markello
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Anal Biochem 198:368-74. 1991
    ..This system provides a tool for detecting lipids that accumulate in tissues of patients with currently unidentified metabolic storage disorders...
  33. ncbi request reprint Photoaffinity labeling of lysosomal membrane proteins with [125I]diiodotyrosine, a system h ligand
    H C Andersson
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Biochem Mol Med 55:71-3. 1995
    ..The 70-kDa protein may represent some portion of the system h carrier protein...
  34. doi request reprint Chemical individuality: concept and outlook
    W A Gahl
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, MSC 1851, Besthesda, Maryland, USA
    J Inherit Metab Dis 31:630-40. 2008
    ..Just as Garrod predicted that the future of biochemical genetics would be intertwined with the concept of chemical variability, we might forecast that variation will influence emotions, dreams, and the human thinking process itself...
  35. ncbi request reprint Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus
    S G Kaler
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Nat Genet 8:195-202. 1994
    ..In both mutations, maintenance of some normal splicing is demonstrable by RT-PCR, cDNA sequencing and ribonuclease protection...
  36. pmc Hutchinson-Gilford progeria syndrome: oral and craniofacial phenotypes
    D L Domingo
    Clinical Research Core, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
    Oral Dis 15:187-95. 2009
    ..Craniofacial features include 'bird-like' facies, alopecia, craniofacial disproportion, and dental crowding. Our prospective study describes dental, oral soft tissue, and craniofacial bone features in HGPS...
  37. ncbi request reprint The metabolism of fatty acids in human Bietti crystalline dystrophy
    J Lee
    Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, National Institutes of Health, 10 Center Drive MSC 1860, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 42:1707-14. 2001
    ..These findings raise the possibility that abnormal lipid metabolism associated with BCD is the result of deficient lipid binding, elongation, or desaturation in contrast to the lysosomal acid lipase deficiency found in Wolman disease...
  38. ncbi request reprint Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor
    E C Dell'Angelica
    Cell Biology and Metabolism Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell 3:11-21. 1999
    ..Our results suggest that AP-3 functions in protein sorting to lysosomes and provide an example of a human disease in which altered trafficking of integral membrane proteins is due to mutations in a component of the sorting machinery...
  39. ncbi request reprint MRI findings and peripheral neuropathy in Lowe's syndrome
    L Charnas
    Section of Human Biochemical Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Neuropediatrics 19:7-9. 1988
    ..We conclude that both a peripheral axonopathy and a central demyelinating or gliotic process occurs in oculocerebrorenal syndrome in the absence of the severe renal disease that often complicates this disorder...
  40. ncbi request reprint Proteomic analysis of platelet alpha-granules using mass spectrometry
    D M Maynard
    Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD 20892 1851, USA
    J Thromb Haemost 5:1945-55. 2007
    ..This article represents the first effort to define the platelet alpha-granule proteome using mass spectrometry (MS)...
  41. ncbi request reprint Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome
    W Introne
    Heritable Disorders Branch, National Institutes of Health, Bethesda, Maryland
    Mol Genet Metab 68:283-303. 1999
    ..Lyst and LYST show 86.5% sequence homology. LYST encodes a 429 kDa protein with a function that remains unknown, but the source of extensive speculation among students of cell biology...
  42. doi request reprint A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication
    M Arcos-Burgos
    National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
    Mol Psychiatry 15:1053-66. 2010
    ..Linkage and replicated association of ADHD with a novel non-candidate gene (LPHN3) provide new insights into the genetics, neurobiology, and treatment of ADHD...
  43. ncbi request reprint RAB GTPases expressed in human melanoma cells
    D Chen
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Biochim Biophys Acta 1355:1-6. 1997
    ....
  44. pmc Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme
    R Seppala
    1Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Am J Hum Genet 64:1563-9. 1999
    ..The heterozygous nature of the mutant allele in all three patients reveals a dominant mechanism of inheritance for sialuria...
  45. ncbi request reprint Identification of the metabolic defect in sialuria
    P Weiss
    National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland 20892
    J Biol Chem 264:17635-6. 1989
    ....
  46. ncbi request reprint Clinical and biochemical studies in an American child with sialuria
    D M Krasnewich
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Biochem Med Metab Biol 49:90-6. 1993
    ..The intracellular pH of sialuria fibroblasts, 7.18 +/- 0.04, was not found to be significantly different from that of normal cells (7.19 +/- 0.08)...
  47. ncbi request reprint Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1
    S H Hahn
    Section of Human Biochemical Genetics, Human Genetics Branch, NICHD, NIH, Bethesda, Maryland 20892, USA
    Hum Mutat 6:66-73. 1995
    ..The chronic phenotype of tyrosinemia type 1 in this patient may be due to some residual, correct splicing by the allele with the splicing mutation...
  48. ncbi request reprint Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets
    D Chen
    Section on Human Biochemical Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Biochem Mol Med 60:27-37. 1997
    ....
  49. ncbi request reprint Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes
    W A Gahl
    Section on Human Biochemical Genetics, Human Genetics Branch, NICHD, NIH, Bethesda, Maryland 20892 1830, USA
    Pigment Cell Res 8:229-33. 1995
    ..These data indicate that a tyrosine transport system exists in the melanosomal membrane and that the p gene does not encode a tyrosine transporter of critical importance...