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Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.

作者信息

Kausar Tasleem, Jaworek Thomas J, Tariq Nabeela, Sadia Sobia, Ali Muhammad, Shaikh Rehan S, Ahmed Zubair M

出版信息

J Invest Dermatol. 2013 Apr;133(4):1099-102. doi: 10.1038/jid.2012.432. Epub 2012 Nov 29.

DOI:10.1038/jid.2012.432
PMID:23190901
Abstract
摘要

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Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.荷兰 4 型眼皮肤白化病患者无其他眼部缺损的明显色素减退。
Sci Rep. 2021 Jun 2;11(1):11572. doi: 10.1038/s41598-021-90896-y.
2
Identification and Computational Analysis of Novel and Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.巴基斯坦患有相同非综合征性眼皮肤白化病家族中新型基因及基因突变的鉴定与计算分析
Front Genet. 2020 Jul 21;11:749. doi: 10.3389/fgene.2020.00749. eCollection 2020.
3
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
巴基斯坦人群眼皮肤白化病的分子结果、临床后果和遗传诊断。
Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185.