Article
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.
Neuromolecular medicine - 1 Sept 2013
Huang Yu, Yang Lu, Wang Jianchun, Yang Fan, Xiao Ying, Xia Rongjun, Yuan Xianhou, Yan Mingshan
Abstract excerpt
Ataxia telangiectasia (A-T) is an autosomal recessive disease characterized mainly by progressive cerebellar ataxia, oculocutaneous telangiectasia, and immunodeficiency. This disease is caused by mutations of the ataxia telangiectasia mutated (Atm) gene. More than 500 Atm mutations that are responsible for A-T have been identified so far. However, there have been very few A-T cases reported in China, and only two...
Topics
- Adolescent
- Asian People
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Atrophy
- Cerebellum
- Child
- Child, Preschool
- China
- Codon, Nonsense
- DNA Mutational Analysis
- Exons
- Female
- Frameshift Mutation