A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts

A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts

AIM: To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation. METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mu...

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Bibliographic Details
Main Authors: Feng-Tao Dang, Fa-Yu Yang, Ye-Qin Yang, Xiang-Lian Ge, Ding Chen, Liu Zhang, Xin-Ping Yu, Feng Gu, Yi-Hua Zhu
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2016-11-01
Series:International Journal of Ophthalmology
Subjects:
cataracts
mutation
connexin 50
GJA8
molecular consequences
Online Access:http://www.ijo.cn/en_publish/2016/11/20161105.pdf

Internet

http://www.ijo.cn/en_publish/2016/11/20161105.pdf

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