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

Internet

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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