A Missense Mutation in OPA1 Causes Dominant Optic Atrophy in a Chinese Family
Background. To investigate the genetic causes and clinical characteristics of dominant optic atrophy (DOA) in a Chinese family. Methods. A 5-generation pedigree of 35 family members including 12 individuals affected with DOA was recruited from Shenzhen Eye Hospital, China. Four affected family membe...
Saved in:
Main Authors: | Shaoyi Mei, Xiaosheng Huang, Lin Cheng, Shiming Peng, Tianhui Zhu, Liang Chen, Yan Wang, Jun Zhao |
---|---|
Format: | Article |
Language: | English |
Published: |
Wiley
2019-01-01
|
Series: | Journal of Ophthalmology |
Online Access: | http://dx.doi.org/10.1155/2019/1424928 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
by: Yu Zhou, et al.
Published: (2016-01-01) -
Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH
by: Xiaodong Gu, et al.
Published: (2016-01-01) -
Genetic Analysis Reveals A Missense Mutation In Reactivation Gene-2 Causing Severe Combined Immunodeficiency Disease In A Pakistani Family
by: Shahida Awais, et al.
Published: (2024-06-01) -
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families
by: Shanshan Gao, et al.
Published: (2025-01-01) -
A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome
by: Ying Zhang, et al.
Published: (2025-12-01)