Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Fang, Shaohua, Guo, Xiangming, Jia, Xiaoyun, Xiao, Xueshan, Li, Shiqiang, Zhang, Qingjiong
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576482/
https://www.ncbi.nlm.nih.gov/pubmed/18978956