R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family

PURPOSE: We identified a large Chinese family with X-linked juvenile retinoschisis. The purpose of this study was to report the clinical findings of the family and to identify the genetic mutation by screening the retinoschisis 1 (RS1) gene. METHODS: Family history was collected and all family membe...

Descripción completa

Detalles Bibliográficos
Autores principales: Xu, Jun, Gu, Hong, Ma, Kai, Liu, Xipu, Snellingen, Torkel, Sun, Erdan, Wang, Ningli, Liu, Ningpu
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2927431/
https://www.ncbi.nlm.nih.gov/pubmed/20806044

Ejemplares similares

Ejemplares similares