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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism

PURPOSE: There are few genetic studies and clinical descriptions of Asian patients with X-linked ocular albinism (OA1). In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1. METHODS: Six fa...

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Detalhes bibliográficos
Main Authors: Fang, Shaohua, Guo, Xiangming, Jia, Xiaoyun, Xiao, Xueshan, Li, Shiqiang, Zhang, Qingjiong
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2576482/
https://ncbi.nlm.nih.gov/pubmed/18978956
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