Research Topics
Genomes and Genes
| Koh ichiro YoshiuraSummaryAffiliation: Nagasaki University Country: Japan Publications
| Collaborators
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Detail Information
Publications
Failure to confirm CNVs as of aetiological significance in twin pairs discordant for schizophreniaShinji Ono
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan
Twin Res Hum Genet 13:455-60. 2010..Schizophrenia caused by strong genetics factors including copy number alteration or gene mutation may be a small subset of the clinical population...
Colocalization of doublecortin with the microtubules: an ex vivo colocalization study of mutant doublecortinK Yoshiura
Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
J Neurobiol 43:132-9. 2000..The results of our study may suggest that the cytoskeleton involving DCX mediates the neuronal migration during brain development...- A SNP in the ABCC11 gene is the determinant of human earwax typeKoh ichiro Yoshiura
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Nat Genet 38:324-30. 2006..These suggest that the allele A arose in northeast Asia and thereafter spread through the world. The 538G --> A SNP is the first example of DNA polymorphism determining a visible genetic trait... - A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feetShinji Kondoh
Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto, Japan
J Hum Genet 47:136-9. 2002..NM 015909), which is located at least 50kb centromeric to the breakpoint and is not likely to be related to MIP. MIPOL1 is a good candidate gene for the MIP type of anomaly... - The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domainTomohiko Kayashima
Department of Human Genetics, Nagasaki University School of Medicine, Japan
Hum Genet 112:220-6. 2003..However, analysis of ten SRS patients revealed no mutations in CPA4... - Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsionsShinji Ono
Department of Psychiatry, Nagasaki University Hospital, Sakamoto 1 7 1, Nagasaki, Japan
J Hum Genet 57:338-41. 2012..Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism... - Maternal isodisomy for 14q21-q24 in a man with diabetes mellitusTomohiko Kayashima
Department of Human Genetics, Nagasaki University, Japan
Am J Med Genet 111:38-42. 2002.... - LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral densityTakeshi Mizuguchi
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Sakamoto 1 12 4, Nagasaki 852 8523, Japan
J Hum Genet 49:80-6. 2004..2220C>T (kappa2=6.737, p=0.009). These results suggest that LRP5 is a BMD determinant and also contributes to a risk of osteoporosis... - Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytologyKentaro Yamasaki
Department of Obstetrics and Gynecology, School of Medicine, Nagasaki University, Sakamoto, Japan
J Obstet Gynaecol Res 37:1666-70. 2011..To investigate the pre-vaccination epidemiology of genital human papillomavirus (HPV) infections and genotypes in women with abnormal cytology in Nagasaki, Japan... - Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disordersKiyonori Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
J Hum Genet 56:296-9. 2011..This procedure could avoid unnecessary CVS in female fetuses... - A strong association between human earwax-type and apocrine colostrum secretion from the mammary glandKiyonori Miura
Department of Obstetrics and Gynaecology, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
Hum Genet 121:631-3. 2007..0002), and the measurable colostrum volume in dry-type women was significantly smaller than in wet-type women (P=0.0341)... - The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasmaKiyonori Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Prenat Diagn 30:849-61. 2010..The purpose of this study is to investigate a possibility of overall assessment of cell-free (CF) placental mRNAs in maternal plasma... - A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12Masayoshi Tsuda
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Japan
J Hum Genet 55:124-6. 2010..A maximum LOD score of 2.408 was obtained at 2p24.2-24.1 and 2p21-p12, assuming autosomal dominant inheritance. Our results suggest that either of these regions is responsible for this type of CSP... - Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprintingTomohiko Kayashima
Department of Human Genetics, Nagasaki University, School of Medicine, Nagasaki 852 8523, Japan
Genomics 81:644-7. 2003..Furthermore, there was no differential methylation in the CpG island and no antisense transcripts of the gene. These findings suggest that the mouse Atp10a gene escapes genomic imprinting... - Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndromeHideo Kuniba
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
J Hum Genet 54:304-9. 2009..As various platforms on oligonucleotide arrays have been developed, higher resolution platforms will need to be applied to search tiny genomic rearrangements in patients with KS... - Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndromeTaichi Takahata
Department of Ophthalmology and Visual Sciences, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
J Hum Genet 55:142-6. 2010..It is possible that some reported cases of MSS without base alterations in the SIL1 gene are caused by deletions rather than locus heterogeneity... - A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1Kiyonori Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki, Japan
Hum Reprod 25:1076-80. 2010..Therefore, this is the first case of KS carrying a de novo missense mutation in FGFR1 exon 8A, suggesting that isoform FGFR1-IIIb, as well as isoform FGFR1-IIIc, plays a crucial role in the pathogenesis of KS... - Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP arrayMasahiro Oikawa
Departments of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Eur J Med Genet 53:244-9. 2010..This is the first experience of adoption of fingernail DNA to genome-wide, high-density SNP microarray analysis, showing candidate brain AVM susceptible regions... - Identification of pregnancy-associated microRNAs in maternal plasmaKiyonori Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki 852 8501, Japan
Clin Chem 56:1767-71. 2010..Our understanding of these novel molecules is still limited, however. The aim of this study was to isolate and characterize pregnancy-associated miRNAs in maternal plasma... 
Identification of novel schizophrenia loci by homozygosity mapping using DNA microarray analysisNaohiro Kurotaki
Department of Neuropsychiatry, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
PLoS ONE 6:e20589. 2011..Analysis of patients whose parents are first cousins may provide new insights for the genetic analysis of psychiatric diseases...- Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese familyMitsuko Nakashima
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
J Hum Genet 53:34-41. 2008..We thus performed mutation, Southern-blot and methylation analyses of ZFHX4 but could not find any disease-specific change in the family. Nevertheless, our data may support the localization of PTOS1... - A syndactyly type IV locus maps to 7q36Daisuke Sato
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, and Women and Children s Hospital of Hunan Province, Changsha, China
J Hum Genet 52:561-4. 2007..Analysis of three candidate genes, LMBR1, SHH and ZRS, failed to identify any pathogenic mutations. Our gene mapping may give a clue to identify the putative SD4 gene and provide a better understanding of normal human limb development... - A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 geneMotoi Nakano
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
BMC Genet 10:42. 2009..AO was defined here as a clinical condition of individuals with a deep anxiety regarding axillary odor and had undergone the removal of bilateral axillary apocrine glands... - Epidemiology of human papillomavirus genotypes in pregnant Japanese womenKentaro Yamasaki
Department of Obstetrics and Gynecology, School of Medicine, Nagasaki University, Nagasaki, Japan
J Hum Genet 56:313-5. 2011..Infection with multiple HPV genotypes was observed more frequently in the first trimester of pregnancy and the pattern of infection changed significantly depending on pregnancy stage... - The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitusJunichi Kamimura
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
J Hum Genet 49:360-5. 2004..The disruption of IHPK1 or another predisposing gene affected by position effect of the translocation may explain the T2DM phenotype at least in this family. Alternatively, the IHPK1 disruption in the family is a chance association... - Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populationsKensaku Sasaki
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Gene 512:267-74. 2013..Based on the autosomal chromosome pairs investigated, we estimate the rate of segmental UPD to be one per 3806 chromosome pairs (0.026%). These data imply the possibility of hidden segmental UPD in normal individuals... - Copy number alteration and uniparental disomy analysis categorizes Japanese papillary thyroid carcinomas into distinct groupsMichiko Matsuse
Department of Radiation Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Nagasaki, Japan
PLoS ONE 7:e36063. 2012..These data suggest that Japanese PTCs may be classified into three distinct groups: CNA(+), UPD(+), and no chromosomal aberrations. BRAF(V600E) mutational status did not correlate with any parameters of chromosomal defects... - Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC familiesTaeko Kikuchi
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1 12 4, Nagasaki, 852 8523, Japan
J Hum Genet 52:334-41. 2007..Thus, one of the two genes, SCNN1G and ITGAL, could be causative for PKC, but we were not able to find any other mutations that explain the PKC phenotype... - A Japanese patient with a mild Lenz-Majewski syndromeSumito Dateki
Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1, Sakamoto, Nagasaki 852 8501, Japan
J Hum Genet 52:686-9. 2007..The present case may be considered to fall in the mildest end in the phenotypic continuum of Lenz-Majewski syndrome, suggesting that the clinical spectrum of the disorder may be broader than currently thought... - Congenital arhinia: molecular-genetic analysis of five patientsDaisuke Sato
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Am J Med Genet A 143:546-52. 2007..Although our study failed to identify the putative arhinia gene, the data may become a clue to unravel the underlying mechanism of arhinia... - Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)Tomohiko Kayashima
Department of Human Genetics Nagasaki University School of Medicine, Japan
J Hum Genet 47:77-9. 2002..Thus, Nonaka myopathy is the third disease known to be caused by GNE mutations... - Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairYuka Nakazawa
Nagasaki University Research Centre for Genomic Instability and Carcinogenesis, Nagasaki, Japan
Nat Genet 44:586-92. 2012..Our findings provide mechanistic insights into the processing of stalled RNA polymerase and explain the different clinical features across these TC-NER–deficient disorders... - Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridizationMasahiro Oikawa
Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Radiat Oncol 6:168. 2011.... - Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?Mohsen Ghadami
Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
Am J Med Genet A 127:307-9. 2004.... - Increased level of cell-free placental mRNA in a subgroup of placenta previa that needs hysterectomyKiyonori Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Prenat Diagn 28:805-9. 2008..The purpose of this study was to investigate whether cell-free placental mRNA levels have the potential to predict a placenta previa resulting in hysterectomy... - Clinical and molecular analysis of synchronous double lung cancersJunichi Arai
Division of Surgical Oncology, Department of Translational Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1 7 1 Sakamoto, Nagasaki, Nagasaki 852 8501, Japan
Lung Cancer 77:281-7. 2012..To validate the consistency among the pathological assessments and clarify the clinical differences between double primary lesions and metastasis, we also examined synchronous double lung cancer clinical data... - Heterozygous TGFBR2 mutations in Marfan syndromeTakeshi Mizuguchi
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Nat Genet 36:855-60. 2004..These results show that heterozygous mutations in TGFBR2, a putative tumor-suppressor gene implicated in several malignancies, are also associated with inherited connective-tissue disorders... - The Ruby UCSC API: accessing the UCSC genome database using RubyHiroyuki Mishima
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1 12 4 Sakamoto, Nagasaki, Nagasaki, 852 8523, Japan
BMC Bioinformatics 13:240. 2012..A simple application programming interface (API) in a scripting language aimed at the biologist was however not yet available. Here, we present the Ruby UCSC API, a library to access the UCSC genome database using Ruby... - Agile parallel bioinformatics workflow management using PwrakeHiroyuki Mishima
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1 12 4 Sakamoto, Nagasaki, Nagasaki, Japan
BMC Res Notes 4:331. 2011..abstract:.. - The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprintingTakahiro Yamada
Department of Human Genetics, Nagasaki University School of Medicine, Japan
Gene 288:57-63. 2002..The fact that COPG2 and TSGA14, both neighbors of MEST, escape genomic imprinting suggests that the 7q32 imprinted region may be small and not similar to other imprinted domains, such as those at 15q11-13 and 11p15.5... - Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletionNaohiro Kurotaki
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Hum Mutat 22:378-87. 2003..Such LCRs seem to be present in different populations. Thus the different frequency of microdeletions between Japanese and non-Japanese cases in our study may have been caused by patient-selection bias... - A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathwayYukio Watanabe
CREST, Japan Science and Technology Corporation, Kawaguchi, Japan
J Hum Genet 47:478-83. 2002..We also estimated allele frequencies of these DNA polymorphisms among 48 Japanese individuals. Our data will provide a useful resource for the study of disease susceptibility... - Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese familyKazuki Komatsu
Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto, Nagasaki, Japan
J Hum Genet 47:395-9. 2002..It is likely that a genotype-phenotype correlation is also applicable in the case of DFNA6/14/38... - Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palateTheresa M Zucchero
University of Iowa, Iowa City 52242, USA
N Engl J Med 351:769-80. 2004..We searched for a specific genetic factor contributing to this complex trait by examining large numbers of affected patients and families and evaluating a specific candidate gene... - Phenotype-genotype correlation in two patients with 12q proximal deletionNoriko Miyake
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan
J Hum Genet 49:282-4. 2004..Regarding unique symptoms in each case, congenital fibrosis of the extraocular muscles found only in Case 1 may be caused by KIF21A deletion and hearing loss and cleft palate in Case 2 by COL2A1 defect... - Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndromeNoriko Matsuzawa
Department of Oral and Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Japan
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 98:414-7. 2004..To our knowledge, this is the first report of IRF6 mutations observed in Japanese VWS patients... - A mutation in RYK is a genetic factor for nonsyndromic cleft lip and palateAkira Watanabe
The Second Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan
Cleft Palate Craniofac J 43:310-6. 2006..Both the Ryk-deficient mouse and Ephb2/Ephb3 (genes for interaction molecules with RYK) double-mutant mouse show cleft palate... - Origin and mechanisms of formation of fetus-in-fetu: two cases with genotype and methylation analysesShoko Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Am J Med Genet A 140:1737-43. 2006..This is the first case of FIF showing different methylation patterns between a host infant and fetiform mass... - Quantitative structure--activity relationship analysis and molecular dynamics simulation to functionally validate nonsynonymous polymorphisms of human ABC transporter ABCB1 (P-glycoprotein/MDR1)Aki Sakurai
Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, Yokohama, Japan
Biochemistry 46:7678-93. 2007.... - No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndromeHideo Kuniba
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Am J Med Genet A 146:1893-6. 2008 - Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegiaHiroshi Iwanaga
First Department of Internal Medicine, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto, Nagasaki, Japan
Am J Med Genet A 133:13-7. 2005.... - Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNAMitsuko Nakashima
Clin Chem 54:1746-8. 2008 - Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluidShoko Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-7-1, 852-8501, Nagasaki, Japan
J Hum Genet 51:412-7. 2006.... - Labor increases maternal DNA contamination in cord bloodHideaki Masuzaki
Clin Chem 50:1709-11. 2004 - Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown causeKiyonori Miura
Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Am J Med Genet A 140:1827-33. 2006..8/15 infants without CPM), although no statistically significant difference was obtained. The information obtained will be useful for perinatal care and genetic counseling for infants with IUGR and CPM... - Narrowing candidate region for monosomy 9p syndrome to a 4.7-Mb segment at 9p22.2-p23Hiroki Kawara
Kyusyu Medical Science Nagasaki Laboratory, Nagasaki, Japan
Am J Med Genet A 140:373-7. 2006..2-p23. This, together with previous studies in the literature, narrowed the shortest region of overlap (SRO) for the syndrome to a 4.7-Mb interval. Candidate genes for trigonocephaly, mental retardation, and brown hair are discussed... - [Positional cloning of disease gene]Koh-Ichiro Yoshiura
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences
Nippon Rinsho 63:421-6. 2005 - A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2Desheng Liang
National Laboratory of Medical Genetics of China, Xiangya Hospital, Central South University, Changsha, China
Am J Med Genet A 140:238-44. 2006..Karyotypes of the propositus and his son were thus inv(12)(pter-->p11.22::q14.1-->p12.3::q14.1-->qter). This is the first report of "pure" proximal 12p-trisomy including p12.3-p11.22 region... - Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studiesMasayo Nomura
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, 1-12-4 Sakamoto, Nagasaki 852-8523, Japan
J Hum Genet 50:483-9. 2005..It is thus less likely that autoantibody and/or a local immune reaction in their skin has a primary role in eosinophil infiltration in these patients... - CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20qAlan Shiels
Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
Am J Hum Genet 81:596-606. 2007.... - PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analysesEisaburo Ichikawa
Department of Oral and Maxillofacial Surgery, Tokyo Dental College, Chiba, Japan
J Hum Genet 51:38-46. 2006..0016. Population-based haplotyping revealed that the association was most significant for haplotype "A/A" consisting of IVS1 + 5321 and IVS1 - 1572; TDT also gave a P-value of 0.0252 in this haplotype... - A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical regionDaisuke Sato
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Am J Med Genet A 146:124-7. 2008 - Primary palmar hyperhidrosis locus maps to 14q11.2-q13Ikuyo Higashimoto
Department of Anesthesiology, Faculty of Medicine, Saga University, Nabeshima, Saga, Japan
Am J Med Genet A 140:567-72. 2006..This is the first report of systemic mapping of the PPH locus...