Molecular diagnosis of oculocutaneous albinism:: new mutations in the OCA1-4 genes and practical aspects

被引：81

作者：

Rooryck, Caroline ^{[1
,2
]}

Morice-Picard, Fanny ^{[2
,3
]}

Elcioglu, Nursel H. ^{[4
]}

Lacombe, Didier ^{[1
,2
]}

Taieb, Alain ^{[3
]}

Arveiler, Benoit ^{[1
,2
]}

机构：

[1] Univ Victor Segalen Bordeaux, Lab Genet Humaine EA4137, Bordeaux, France

[2] CHU Bordeaux, Hop Pellegrin Enfants, Serv Genet Med, Bordeaux, France

[3] CHU Bordeaux, Hop Pellegrin Enfants, Serv Dermatol Pediat, Bordeaux, France

[4] Marmara Univ Hosp, Dept Pediat Genet, Istanbul, Turkey

来源：

PIGMENT CELL & MELANOMA RESEARCH | 2008年 / 21卷 / 05期

关键词：

oculocutaneous albinism; tyrosinase; OCA2; TYRP1; SLC45A2;

D O I：

10.1111/j.1755-148X.2008.00496.x

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

引用

页码：583 / 587

页数：5

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