A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree

PURPOSE: To report the identification of a nonsense mutation in γC-crystallin (CRYGC) associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese family. METHODS: We investigated four generations of a Chinese family six of whose members were affected by nuclear catar...

Descripción completa

Detalles Bibliográficos
Autores principales: Guo, Yuanyuan, Su, Dongmei, Li, Qian, Yang, Zhenfei, Ma, Zicheng, Ma, Xu, Zhu, Siquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413427/
https://www.ncbi.nlm.nih.gov/pubmed/22876111

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413427/
https://www.ncbi.nlm.nih.gov/pubmed/22876111

Ejemplares similares