Novel MIP gene mutation causes autosomal-dominant congenital cataract

Novel MIP gene mutation causes autosomal-dominant congenital cataract

AIM: To identify disease-causative mutations in families with congenital cataract. METHODS: Two Chinese families with autosomal-dominant congenital cataract (ADCC) were recruited and underwent comprehensive eye examinations. Gene panel next-generation sequencing of common pathogenic genes of congeni...

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Bibliographic Details
Main Authors: Jing-Lan Ni, Hua-Ming Wen, Xiao-Sheng Huang, Qian-Wen Li, Jia-Min Cai, Bao-Jian Fan, Jun Zhao
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2024-03-01
Series:International Journal of Ophthalmology
Subjects:
congenital cataract
major intrinsic protein
missense mutation
zebrafish model
Online Access:http://ies.ijo.cn/en_publish/2024/3/20240306.pdf

Internet

http://ies.ijo.cn/en_publish/2024/3/20240306.pdf

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