Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

PURPOSE: Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration and six of the 22 known LCA disease genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA disease genes, the genetic basis of approximately 30% of LCA patients remains unknown. We sou...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4965339/
https://ncbi.nlm.nih.gov/pubmed/26820066
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2015.205
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados