Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr

Identification and functional analysis of a novel missense mutation in GJA8, p.Ala69Thr

Abstract Background To explore the molecular genetic cause of a four-generation autosomal dominant congenital cataract family in China. Methods Targeted region sequencing was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model wa...

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Bibliographic Details
Main Authors: Dandan Li, Chenjia Xu, Dandan Huang, Ruru Guo, Jian Ji, Wei Liu
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Ophthalmology
Subjects:
GJA8
Congenital cataract
Hemichannel
Online Access:http://link.springer.com/article/10.1186/s12886-020-01725-1

Internet

http://link.springer.com/article/10.1186/s12886-020-01725-1

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