Genomes and Genes
R G Weleber
Affiliation: Oregon Health and Science University
- Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogramPeter J Francis
Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239 4197, USA
Arch Ophthalmol 123:1146-9. 2005
- Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal DystrophyRichard G Weleber
Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon Electronic address
Ophthalmology 123:1606-20. 2016..To provide an initial assessment of the safety of a recombinant adeno-associated virus vector expressing RPE65 (rAAV2-CB-hRPE65) in adults and children with retinal degeneration caused by RPE65 mutations...
- Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathyGrazyna Adamus
Neurological Sciences Institute, Oregon Health and Science University, Beaverton, Oregon, USA
BMC Ophthalmol 4:5. 2004..However, there is limited information on the occurrence, the specificity of autoantibodies in these patients, and their association with clinical symptoms...
- The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinosesR G Weleber
Oregon Health Sciences University, Casey Eye Institute, Portland 97201 4197, USA
Eye (Lond) 12:580-90. 1998..Differences in the ERG responses were thus found that provide further clues to the earliest site of pathology within the retina...
- Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)Richard G Weleber
Casey Eye Institute, Oregon Health and Science University, Portland, OR 97201 4197, USA
Ophthalmic Genet 23:71-97. 2002..These discoveries have opened new areas of cellular and developmental biology for future research into the causes of retinal blindness...
- Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapyRichard G Weleber
Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, 3375 Southwest Terwilliger Boulevard, Portland, OR 97239, USA
Ophthalmol Clin North Am 16:583-93, vii. 2003....
- X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGRR G Weleber
Department of Ophthalmology, Oregon Health Sciences University, Portland, USA
Arch Ophthalmol 115:1429-35. 1997..Mutations in the RPGR gene at the RP3 locus have been found to cause x-linked retinitis pigmentosa in some families...
- Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodiesRichard G Weleber
Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239, USA
Am J Ophthalmol 139:780-94. 2005..We report the clinical and electrophysiological features of antienolase retinopathy in contrast to the features of antirecoverin retinopathy...
- The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosisRichard G Weleber
Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
Invest Ophthalmol Vis Sci 52:292-302. 2011..To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65...
- Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)Richard G Weleber
Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, OR, USA
Mol Genet Metab 83:128-37. 2004..The ERG findings support the existence early in the disease of a relative pre- or post-synaptic block of effective neurotransmission from photoreceptor inner segments to the second order bipolar neurons...
- Genetic and phenotypic heterogeneity in pattern dystrophyP J Francis
Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Blvd, Portland, OR 97239 4197, USA
Br J Ophthalmol 89:1115-9. 2005..Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised...
- Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosaK T Oh
Department of Ophthalmology, University of North Carolina, Chapel Hill, NC, USA
Br J Ophthalmol 88:1533-7. 2004..To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg135Leu change in rhodopsin...
- Allelic variation in the VMD2 gene in best disease and age-related macular degenerationA J Lotery
Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City 52242, USA
Invest Ophthalmol Vis Sci 41:1291-6. 2000..To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD)...
- Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2P M Jakobs
Department of Molecular Medicine, Oregon Health Sciences University, Portland, OR, USA
Am J Hum Genet 66:1432-6. 2000..This is the first report of an inherited cataract that is caused by a mutation in a cytoskeletal protein...
- Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosaS G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, USA
Invest Ophthalmol Vis Sci 41:1898-908. 2000..To determine the disease expression in heterozygotes for mutations in the RP1 gene, a newly identified cause of autosomal dominant retinitis pigmentosa (adRP)...
- Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1qM L Klein
Macular Degeneration Center, Casey Eye Institute, Oregon Health Sciences University, Portland, USA
Arch Ophthalmol 116:1082-8. 1998..To identify the chromosomal location of a disease-causing gene and to describe the clinical characteristics of a large family with age-related macular degeneration (ARMD)...
- Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14A O Edwards
Casey Eye Institute, Department of Ophthalmology, Oregon Health Sciences University, Portland, USA
Am J Ophthalmol 127:426-35. 1999..Characterize the phenotype of autosomal dominant Stargardt-like macular dystrophy in two families linked to chromosome 6q14 and determine whether they share a common ancestry...
- A new locus for autosomal dominant congenital cataracts maps to chromosome 3P L Kramer
Department of Neurology, Oregon Health Sciences University, Portland 97201, USA
Invest Ophthalmol Vis Sci 41:36-9. 2000..To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region...
- Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutationsD A Pillers
Department of Pediatrics, Oregon Child Health Research Center, Doernbecher Children s Hospital, Oregon Health Sciences University, Portland 97201 3042, USA
Hum Genet 105:2-9. 1999....
- HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic modelA Kobayashi
Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami School of Medicine, Florida, USA
Invest Ophthalmol Vis Sci 41:3268-77. 2000..To investigate the function and pathogenicity of HRG4, a photoreceptor synaptic protein homologous to the Caenorhabditis elegans neuroprotein UNC119...
- Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual lossP J Francis
Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon 97239 4197, USA
J Med Genet 46:300-7. 2009..This paper examines other AMD susceptibility genes to determine if these genotypes influenced disease progression and treatment response...
- Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23Kean T Oh
Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
Am J Ophthalmol 136:306-13. 2003..To examine the difference in expression of retinitis pigmentosa from mutations at codon 23 and codon 347 or rhodopsin; to report a novel mutation in rhodopsin...
- Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatusKean T Oh
Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
Retina 24:920-8. 2004..To characterize the clinical and electroretinogram (ERG) features of our cohort of patients with Stargardt disease (STGD) exhibiting coding sequence variations in the ABCA4 gene...
- An analysis of allelic variation in the ABCA4 geneA R Webster
Department of Ophthalmology, The University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA
Invest Ophthalmol Vis Sci 42:1179-89. 2001..To assess the allelic variation of the ATP-binding transporter protein (ABCA4)...
- Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindnessR G Weleber
Department of Ophthalmology, Oregon Health Sciences University, Portland 97201
Arch Ophthalmol 107:1170-9. 1989..We also recommend that the gene symbols CSNB1 and CSNB2 be used for complete congenital stationary night blindness and Aland disease, respectively...
- Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutantsD A Pillers
Oregon Retinal Degeneration Center, Oregon Child Health Research Center, Portland, Oregon, 97201, USA
Mol Genet Metab 66:100-10. 1999..Although Dp427 and Dp140 isoforms do not appear to be important contributors to the ERG, lack of Dp260 and possibly Dp71 isoforms is associated with an abnormal ERG...
- Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndromeD A Pillers
Department of Pediatrics, Children s Hospital, Oregon Health Sciences University, Portland
Arch Ophthalmol 111:1558-63. 1993..To determine whether abnormal configurations on electroretinogram were a consistent finding in patients with Xp21 deletion and to characterize the associated ophthalmologic phenotype...
- Familial optic atrophy with negative electroretinogramsR G Weleber
Department of Ophthalmology, Oregon Health Sciences University, Portland
Arch Ophthalmol 110:640-5. 1992....
- Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAAM Litt
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA
Hum Mol Genet 7:471-4. 1998..We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family...
- Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodiesGrazyna Adamus
Casey Eye Institute, Department of Ophthalmology, School of Medicine, Oregon Health and Science University, Portland, OR 97239, USA
Exp Mol Pathol 87:195-203. 2009..Our studies suggest that anti-transducin autoantibodies can serve as molecular biomarkers for retinal phenotypes and could be used for progression of retinal dysfunction and degeneration...
- HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspectiveDennis W Schultz
Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239 4197, U S A
Ophthalmic Genet 26:101-5. 2005..The data can be reconciled through proposing both additional variants in HEMICENTIN-1 and a second genetic risk factor for AMD in the region...
- Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiencyMelanie B Gillingham
Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239, USA
Mol Genet Metab 86:124-33. 2005..31). Thus, optimal dietary therapy as indicated by low plasma 3-hydroxyacylcarnitine and high plasma DHA concentrations was associated with retention of retinal function and visual acuity in children with LCHAD or TFP deficiency...
- Joubert syndrome surviving to adulthood associated with a progressive movement disorderSteven A Gunzler
Parkinson s Disease Research, Education, and Clinical Center, Portland VA Medical Center, Portland, Oregon, USA
Mov Disord 22:262-5. 2007..This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs...
- Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degenerationPeter J Francis
Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States of America
PLoS ONE 2:e1197. 2007..We aimed to better understand the functional role of this gene in the AMD disease process and assess whether it is associated with earlier forms of the disease...
- The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degenerationPeter J Francis
Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, OR 97239, USA
Hum Hered 63:212-8. 2007....
- Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotypeKarmen M Trzupek
Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon 97239, USA
Am J Med Genet A 143:1218-22. 2007..The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism...
- Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femurRodney K Beals
Department of Orthopaedics and Rehabilitation, Oregon Health and Science University, Portland, Oregon 97239, USA
Am J Med Genet A 143:2444-7. 2007..A long term followup of one patient is presented along with a review of the reported cases...
- Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degenerationDennis W Schultz
Casey Eye Institute, Oregon Health and Science University, Portland, 97239, USA
Arch Ophthalmol 121:679-83. 2003..In addition, the epsilon 2 allele of APOE was reported to be possibly associated with an increased risk of AMD...
- Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegiaRodney K Beals
Department of Orthopaedics and Rehabilitation, Oregon Health and Science University, Portland, Oregon, USA
Am J Med Genet A 131:67-70. 2004..All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality...
- Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)Robert A Egan
Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland 97201, USA
Am J Ophthalmol 140:267-74. 2005..Since the neuro-ophthalmologic and electroretinographic (ERG) features have never been well delineated, we describe them in 16 patients with PKAN...
- Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large familyDennis W Schultz
Macular Degeneration Center, Casey Eye Institute, Portland, OR 97239 4197, USA
Hum Mol Genet 12:3315-23. 2003....
- Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3R D Carrero-Valenzuela
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
Arch Ophthalmol 114:737-8. 1996..Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results...
- Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2Elizabeth A Grant
School of Medicine, Oregon Health and Science University, Portland, Oregon 97239, USA
Ophthalmic Genet 29:133-8. 2008..To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE)...
- Ophthalmologic screening of deaf students in OregonM V Brinks
Department of Ophthalmology and Casey Eye Institute, Oregon Health Sciencs University, Portland, USA
J Pediatr Ophthalmol Strabismus 38:11-5. 2001..This study alerted the providers of special education services for the deaf and the ophthalmologic community in Oregon of the need for better eye care for these students...
- Ocular clinicopathologic study of gyrate atrophyD J Wilson
Department of Ophthalmology, Oregon Health Sciences University, Portland 97201
Am J Ophthalmol 111:24-33. 1991..Electron microscopic examination disclosed abnormalities of the mitochondria of the corneal endothelium and the non-pigmented ciliary epithelium. Similar, but less severe, mitochondrial abnormalities were present in the photoreceptors...
- Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosaSaloni Walia
Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois, USA
Ophthalmology 117:1190-8. 2010..To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retinitis pigmentosa (RP) with mutations in underlying LCA genes...
- Clinical phenotype as a prognostic factor in Stargardt diseaseKean T Oh
Department of Ophthalmology, University of North Carolina, Chapel Hill, NC, USA
Retina 24:254-62. 2004..To determine the prognostic significance of widespread flecks, described as fundus flavimaculatus, in patients with Stargardt disease...
- Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogramWilliam R Woodward
Department of Neurology, Oregon Health and Science University, Portland, USA
Doc Ophthalmol 115:187-201. 2007..Moreover, in light of the effects of both isoflurane and the ketamine cocktail on blood glucose levels, it would be prudent to control the fasting state of the animals in quantitative ERG studies...
- Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genesRoberto Anitori
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA
Mol Genet Metab 84:176-88. 2005..Furthermore, the high threshold for phenotypic expression in single muscle fibers (92-96%) suggests that therapies may only need to increase the percentage of wild-type mtDNA by a small amount to be beneficial...
- A network of patients with orphan retinal diseases for clinical trials: goals, structure, challengesRichard G Weleber
Oregon Retinal Degeneration Center and Ophthalmology and Molecular and Medical Genetics at the Casey Eye Institute at Oregon, Health Science and University in Portland, OR, USA
Retina 25:S66-S67. 2005
- Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR geneSaloni Walia
Department of Ophthamology and Visual Sciences, University of Illinois, Chicago 60612 7234, USA
Arch Ophthalmol 126:379-84. 2008....
- Electronegative electroretinogram in mucolipidosis IVShan M Pradhan
Keck School of Medicine, University of Southern California, Los Angeles, USA
Arch Ophthalmol 120:45-50. 2002..To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV...
- Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogramSureka Thiagalingam
Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
Ophthalmic Genet 28:135-42. 2007..To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG)...
- CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsiaSusanne Kohl
Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
Eur J Hum Genet 13:302-8. 2005..This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent...
- Expanded genome scan in extended families with age-related macular degenerationSandra Barral
Laboratory of Statistical Genetics, Rockefeller University, New York, New York, USA
Invest Ophthalmol Vis Sci 47:5453-9. 2006..To investigate further the genetic contribution to age-related macular degeneration (AMD), increasing the power of a previous analysis and reproducing the original findings...
- Multifocal electroretinographic evaluation of long-term hydroxychloroquine usersRaj K Maturi
Midwest Eye Institute, Indianapolis, IN 46280, USA
Arch Ophthalmol 122:973-81. 2004....
- Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2Anren Li
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD 20892, USA
Am J Hum Genet 74:817-26. 2004..Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD...
- Inherited and orphan retinal diseases: phenotypes, genotypes, and probable treatment groupsRichard G Weleber
Ophthalmology and Molecular and Medical Genetics at the Oregon Health and Science University, USA
Retina 25:S4-S7. 2005
- Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome geneDarryl Y Nishimura
Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
Am J Hum Genet 77:1021-33. 2005..This type of mutation is likely to be underreported because of the difficulty of deletion detection in the heterozygous state by the mutation screening methods that are used in many studies...
- Molecular testing for hereditary retinal disease as part of clinical careKaty Downs
Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
Arch Ophthalmol 125:252-8. 2007..To describe clinical molecular testing for hereditary retinal degenerations, highlighting results, interpretation, and patient education...
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn
Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, 52242, USA
Am J Hum Genet 72:429-37. 2003..We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance...
- Choroideremia: analysis of the retina from a female symptomatic carrierVera L Bonilha
The Cleveland Clinic Foundation, The Cole Eye Institute, Cleveland, Ohio 44195, USA
Ophthalmic Genet 29:99-110. 2008..To define the retinal pathology in a 91 year-old affected matriarch of a three-generation choroideremia family with multiple manifesting carriers...
- Clinical diagnoses that overlap with choroideremiaThomas K M Lee
Department of Ophthalmology, University of Alberta, Edmonton, Alta
Can J Ophthalmol 38:364-72; quiz 372. 2003..To understand which clinical presentations suggest a diagnosis of choroideremia (CHM)...
- Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspectiveGerald A Fishman
Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, Illinois, USA
Retina 25:772-7. 2005
- Age-related macular degeneration--a genome scan in extended familiesJacek Majewski
Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA
Am J Hum Genet 73:540-50. 2003..Our study has identified new loci that should be considered in future mapping and mutational analyses of AMD and has strengthened the evidence in support of loci suggested by other studies...
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndromeKirk Mykytyn
Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA
Nat Genet 31:435-8. 2002..Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. In addition, we provide data showing that this common mutation is not involved in triallelic inheritance...