A carregar...

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family

PURPOSE: Aniridia is phenotyically and genetically heterogeneous. This study is to summarize the phenotypes and identify the genetic defect responsible for aniridia and congenital progressive cataract in a three generation Chinese family. METHODS: A detailed family history and clinical data from pat...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Jin, Chongfei, Wang, Qiwei, Li, Jinyu, Zhu, Yanan, Shentu, Xingchao, Yao, Ke
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3291521/
https://ncbi.nlm.nih.gov/pubmed/22393272
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!