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Current Eye Research Volume 40, 2015 - Issue 12
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Original Article

Mutation Analysis in Chinese Families with Autosomal Dominant Hereditary Cataracts

Zhenfei YangBeijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China,
,
Qian LiGraduate School, Peking Union Medical College, Beijing, China, ;National Research Institute for Family Planning, Beijing, China and
,
Xu MaGraduate School, Peking Union Medical College, Beijing, China, ;National Research Institute for Family Planning, Beijing, China and ;World Health Organization Collaborating Center for Research in Human Reproduction, Beijing, China
&
Si Quan ZhuBeijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China, Correspondence[email protected]
Pages 1225-1231 | Received 07 Aug 2014, Accepted 07 Dec 2014, Published online: 30 Dec 2014

Citations (6)

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Johanna L Jones & Kathryn P Burdon. (2023) Evaluating gap junction variants for a role in pediatric cataract: an overview of the genetic landscape and clinical classification of variants in the GJA3 and GJA8 genes. Expert Review of Ophthalmology 18:1, pages 71-95.
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Articles from other publishers (5)

Irina Khidiyatova, Indira Khidiyatova, Rena Zinchenko, Andrey Marakhonov, Alexandra Karunas, Svetlana Avkhadeeva, Marat Aznzbaev & Elza Khusnutdinova. (2023) Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga–Ural Region. Current Issues in Molecular Biology 45:6, pages 5145-5163.
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Aixia Jin, Qingqing Zhao, Shuting Liu, Zi-bing Jin, Shuyan Li, Mengqing Xiang, Mingbing Zeng & Kangxin Jin. (2022) Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract. Frontiers in Cell and Developmental Biology 10.
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Kai Jie Wang, Jin Da Wang, Dou Dou Chen, Ming Yang Wang, Bo Yun & Si Quan Zhu. (2020) Characterization of a p.R76H mutation in Cx50 identified in a Chinese family with congenital nuclear cataract. Journal of the Formosan Medical Association 119:1, pages 144-149.
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Yinhui Yu, Menghan Wu, Xinyi Chen, Yanan Zhu, Xiaohua Gong & Ke Yao. (2016) Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts. Scientific Reports 6:1.
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Bin LiYuying LiuYaning LiuHui GuoZhengmao HuKun XiaXuemin Jin. (2016) Identification of a GJA3 Mutation in a Large Family with Bilateral Congenital Cataract . DNA and Cell Biology 35:3, pages 135-139.
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