Genetic Studies of TYRP1 and SLC45A2 in Pakistani Patients with Nonsyndromic Oculocutaneous Albinism

被引：6

作者：

Kausar, Tasleem ^{[1
,2
]}

Jaworek, Thomas I. ^{[1
]}

Tariq, Nabeela ^{[2
]}

Sadia, Sobia ^{[2
]}

Ali, Muhammad ^{[2
]}

Shaikh, Rehan S. ^{[2
]}

Ahmed, Zubair M. ^{[1
,2
]}

机构：

[1] Cincinnati Childrens Hosp Res Fdn, Div Pediat Ophthalmol, Cincinnati, OH USA

[2] Bahauddin Zakariya Univ, Inst Mol Biol & Biotechnol, Multan, Pakistan

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2013年 / 133卷 / 04期

关键词：

MUTATIONS;

D O I：

10.1038/jid.2012.432

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：1099 / 1102

页数：4

共 14 条

[11]

2-C

[12] Molecular diagnosis of oculocutaneous albinism:: new mutations in the OCA1-4 genes and practical aspects [J].

Rooryck, Caroline ;

Morice-Picard, Fanny ;

Elcioglu, Nursel H. ;

Lacombe, Didier ;

Taieb, Alain ;

Arveiler, Benoit .

PIGMENT CELL & MELANOMA RESEARCH, 2008, 21 (05) :583-587

[13] Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient [J].

Rooryck, Caroline ;

Roudaut, Christel ;

Robine, Eulalie ;

Muesebeck, Jorg ;

Arveiler, Benoit .

PIGMENT CELL RESEARCH, 2006, 19 (03) :239-242

[14] Genetics of pigmentary disorders [J].

Tomita, Y ;

Suzuki, T .

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2004, 131C (01) :75-81

← 1 2 →