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A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea

PURPOSE: To report the identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. METHODS: We investigated a four-generation Chinese family with six members affected with nuclear cataracts and microcornea. The family...

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Detalhes bibliográficos
Main Authors: Zhang, Lu, Fu, Songbin, Ou, Yangshan, Zhao, Tingting, Su, Yunjuan, Liu, Ping
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2635849/
https://ncbi.nlm.nih.gov/pubmed/19204787
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