Congenital anterior polar cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

PURPOSE: To identify the potential pathogenic mutation over four generations of a Chinese family with congenital anterior polar cataracts (APC). METHODS: We investigated four generations of a Chinese family who are afflicted with anterior polar cataracts. The family resides in a relatively isolated...

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Detalhes bibliográficos
Main Authors: Zhang, Lu, Zhang, Yi, Liu, Ping, Cao, Wenping, Tang, Xianling, Su, Sheng
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3209423/
https://ncbi.nlm.nih.gov/pubmed/22065922
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