Article
Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.
Molecular vision - 1 Jan 2013
Chen Yabin, Jia Xiaoyun, Wang Panfeng, Xiao Xueshan, Li Shiqiang, Guo Xiangming, Zhang Qingjiong
Abstract excerpt
PURPOSE: Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary...
Topics
- Asian People
- Base Sequence
- Child, Preschool
- China
- Codon, Nonsense
- Cohort Studies
- DNA
- DNA Mutational Analysis
- Female
- Frameshift Mutation
- GTP Phosphohydrolases
- Genetic Carrier Screening
- Humans
- Male
- Mutation
- Mutation, Missense
- Optic Atrophy, Autosomal Dominant
- Pedigree