Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.

Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.

Congenital cataract is a clinically and genetically heterogeneous group of eye disorders that causes visual impairment and childhood blindness. The purpose of this study was to identify the genetic defect associated with autosomal dominant congenital perinuclear cataract in a Chinese family. A detai...

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Bibliographic Details
Main Authors: Dongmei Su, Zhenfei Yang, Qian Li, Lina Guan, Huiling Zhang, Dandan E, Lei Zhang, Siquan Zhu, Xu Ma
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3612055?pdf=render

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http://europepmc.org/articles/PMC3612055?pdf=render

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