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A Novel GJA8 Mutation (p.V44A) Causing Autosomal Dominant Congenital Cataract

PURPOSE: To examine the mechanism by which a novel connexin 50 (Cx50) mutation, Cx50 V44A, in a Chinese family causes suture-sparing autosomal dominant congenital nuclear cataracts. METHODS: Family history and clinical data were recorded and direct gene sequencing was used to identify the disease-ca...

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Publicado en:PLoS One
Main Authors: Zhu, Yanan, Yu, Hao, Wang, Wei, Gong, Xiaohua, Yao, Ke
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2014
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4269439/
https://ncbi.nlm.nih.gov/pubmed/25517998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0115406
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