A carregar...

Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies

PURPOSE: To identify disease-causing mutations in Chinese families who presented with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). METHODS: The pathogenic variant in a Chinese family with autosomal dominant RP was investigated with a specific hereditary eye disease enrichment pane...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Yang, Liping, Wu, Lemeng, Yin, Xiaobei, Chen, Ningning, Li, Genlin, Ma, Zhizhong
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3976687/
https://ncbi.nlm.nih.gov/pubmed/24715753
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!