A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family

PURPOSE: To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS: Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripher...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, Qiang, Ma, Junjie, Yan, Ming, Mothobi, Maneo Emily, Liu, Yuanyuan, Zheng, Fang
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709425/
https://www.ncbi.nlm.nih.gov/pubmed/19597569

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2709425/
https://www.ncbi.nlm.nih.gov/pubmed/19597569

Ejemplares similares