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A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract

PURPOSE: To identify the genetic cause responsible for the autosomal dominant hereditary cataract in a Chinese family. METHODS: A whole family of a proband who has a dominant congenital pulverulent nuclear cataract was recruited into Zhongnan Hospital. The lenses of patients were observed by a slit-...

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Detalhes bibliográficos
Main Authors: Yan, Ming, Xiong, Chenling, Ye, Shui Qing, Chen, Yongmei, Ke, Min, Zheng, Fang, Zhou, Xin
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2268715/
https://ncbi.nlm.nih.gov/pubmed/18334966
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