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...

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Detalhes bibliográficos
Main Authors: Guo, Yuanyuan, Su, Dongmei, Li, Qian, Yang, Zhenfei, Ma, Zicheng, Ma, Xu, Zhu, Siquan
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2012
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3413427/
https://ncbi.nlm.nih.gov/pubmed/22876111
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