Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
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A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogsOculocutaneous albinismMutational analysis of oculocutaneous albinism: a compact reviewPredicting phenotype from genotype: normal pigmentationDNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnosticsDelineating the genetic heterogeneity of OCA in Hungarian patients.Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.Increasing the complexity: new genes and new types of albinism.Functional assessment of human coding mutations affecting skin pigmentation using zebrafish.Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeMolecular and clinical characterization of albinism in a large cohort of Italian patients.Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinismMutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinismComprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.Molecular analysis of Korean patients with oculocutaneous albinism.Albinism in Europe.Near fixation of 374l allele frequencies of the skin pigmentation gene SLC45A2 in Africa.Deleterious nonsynonymous single nucleotide polymorphisms in human solute carriers: the first comparison of three prediction methods.Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.Characterization of melanosomes and melanin in Japanese patients with Hermansky-Pudlak syndrome types 1, 4, 6, and 9.Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community.Mutational Analysis on Membrane Associated Transporter Protein (MATP) and Their Structural Consequences in Oculocutaeous Albinism Type 4 (OCA4)-A Molecular Dynamics Approach.Mutational spectrum of the TYR and SLC45A2 genes in Pakistani families with oculocutaneous albinism, and potential founder effect of missense substitution (p.Arg77Gln) of tyrosinase.Polymorphisms in the genes for oculocutaneous albinism type 1 and type 4 in the German population.Burden of albinism: development and validation of a burden assessment toolOCA4: evidence for a founder effect for the p.D157N mutation of the MATP gene in Japanese and KoreanIncidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albinism type 4
P2860
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P2860
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
description
2004 nî lūn-bûn
@nan
2004 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
@nl
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
@ast
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
@en
type
label
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
@nl
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
@ast
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
@en
prefLabel
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
@nl
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
@ast
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
@en
P2093
P2860
P356
P1476
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.
@en
P2093
Hiroshi Shimizu
Katsuhiko Inagaki
Kenji Takamori
Mari Kishibe
Michi Tanaka
Minoru Takata
Noriaki Kikuchi
Norihisa Ishii
P2860
P304
P356
10.1086/382195
P407
P577
2004-02-11T00:00:00Z