A carregar...

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts

PURPOSE: We sought to identify the genetic defect in a large, five-generation Chinese family with autosomal dominant progressive polymorphic congenital coronary cataracts and to examine the clinical features in detail. METHODS: Clinical and ophthalmologic examinations were conducted on family member...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Li, Fei-feng, Zhu, Si-quan, Wang, Shu-zhen, Gao, Chang, Huang, Shang-zhi, Zhang, Meng, Ma, Xu
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2335123/
https://ncbi.nlm.nih.gov/pubmed/18449377
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!