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Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism

X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three n...

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Detalles Bibliográficos
Autores principales:	Zou, Xuan, Li, Hui, Yang, Lizhu, Sun, Zixi, Yuan, Zhisheng, Li, Huajin, Sui, Ruifang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314354/ https://www.ncbi.nlm.nih.gov/pubmed/28211458 http://dx.doi.org/10.1038/srep33713

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