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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Bibliografiska uppgifter
Huvudupphovsmän: Su, Dongmei, Yang, Zhenfei, Li, Qian, Guan, Lina, Zhang, Huiling, E, Dandan, Zhang, Lei, Zhu, Siquan, Ma, Xu
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2013
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3612055/
https://ncbi.nlm.nih.gov/pubmed/23555834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0059926
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