Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Author:

Yao Yihua,Zheng Xuedong,Ge Xianglian,Xiu Yanghui,Zhang Liu,Fang Weifang,Zhao Junzhao,Gu Feng,Zhu YihuaORCID

Funder

Natural Science Foundation of China

Professor Academic Development Fund of Fujian Medical University

the Chinese National Program on Key Basic Research Project(973 Program)

Zhejiang Provincial & Ministry of Health research fund for medical sciences

Wenzhou Medical University PI Start-Up Grant

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference45 articles.

1. Clinical and experimental advances in congenital and paediatric cataracts;A Churchill;Philosophical Transactions of the Royal Society of London,2011

2. Molecular characteristics of inherited congenital cataracts;B Huang;Eur J Med Genet,2010

3. Worldwide Blindness, Increasing but Avoidable!;A Foster;Semin Ophthalmol,1993

4. Childhood blindness in the context of VISION 2020—the right to sight;C Gilbert;Bull World Health Organ,2001

5. Prevalence and mode of inheritance of major genetic eye diseases in China;DN Hu;J Med Genet,1987

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