Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

Background: Congenital cataract (CC) is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge. Methods: In this study, we tested a three-generation Chinese family...

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Bibliographic Details
Main Authors: Han-Yi Min, Peng-Peng Qiao, Asan, Zhi-Hui Yan, Hui-Feng Jiang, Ya-Ping Zhu, Hui-Qian Du, Qin Li, Jia-Wei Wang, Jie Zhang, Jun Sun, Xin Yi, Ling Yang
Format: Article
Language:English
Published: Wolters Kluwer 2016-01-01
Series:Chinese Medical Journal
Subjects:
Congenital Cataract; GJA8; Next Generation Sequencing; Novel In-frame Deletion; Targeted Genes Capture
Online Access:http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=7;spage=860;epage=867;aulast=Min

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http://www.cmj.org/article.asp?issn=0366-6999;year=2016;volume=129;issue=7;spage=860;epage=867;aulast=Min

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