A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts

PURPOSE: We sought to identify the genetic defect in a four-generation Chinese family with autosomal dominant congenital lamellar cataracts and demonstrate the functional analysis with biosoftware of a candidate gene in the family. METHODS: Family history data were recorded. Clinical and ophthalmolo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Ma, Xu, Li, Fei-Feng, Wang, Shu-Zhen, Gao, Chang, Zhang, Meng, Zhu, Si-Quan
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2573734/
https://ncbi.nlm.nih.gov/pubmed/18958306
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados