Molecular analysis of Korean patients with oculocutaneous albinism.

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Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1)Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.Tyrosinase gene mutations in the Chinese Han population with OCA1.

P2860

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P2860

Molecular analysis of Korean patients with oculocutaneous albinism.

Item

http://www.wikidata.org/entity/Q37951396

description

2011 nî lūn-bûn

@nan

2011年の論文

@ja

2011年学术文章

@wuu

2011年学术文章

@zh-cn

2011年学术文章

@zh-hans

2011年学术文章

@zh-my

2011年学术文章

@zh-sg

2011年學術文章

@yue

2011年學術文章

@zh

2011年學術文章

@zh-hant

name

Molecular analysis of Korean patients with oculocutaneous albinism.

@en

Molecular analysis of Korean patients with oculocutaneous albinism.

@nl

type

Item

label

Molecular analysis of Korean patients with oculocutaneous albinism.

@en

Molecular analysis of Korean patients with oculocutaneous albinism.

@nl

prefLabel

Molecular analysis of Korean patients with oculocutaneous albinism.

@en

Molecular analysis of Korean patients with oculocutaneous albinism.

@nl

P1476

Molecular analysis of Korean patients with oculocutaneous albinism.

@en

P2093

Hyojin Chae

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Myungshin Kim

http://www.w3.org/2001/XMLSchema#string

Shin Hae Park

http://www.w3.org/2001/XMLSchema#string

Yonggoo Kim

http://www.w3.org/2001/XMLSchema#string

P2860

Organization and sequence of the human P gene and identification of a new family of transport proteins

Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan.

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene.

Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.

Albinism: classification, clinical characteristics, and recent findings.

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification.

P2888

s10384-011-0098-z

P304

98-103

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P31

scholarly article

P356

10.1007/S10384-011-0098-Z

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P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P577

2011-11-01T00:00:00Z

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P698

22042571

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Molecular analysis of Korean patients with oculocutaneous albinism.

about

P2860

P2860

Molecular analysis of Korean patients with oculocutaneous albinism.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698