Article
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
Journal of the neurological sciences - 15 Feb 2006
Jiang Hong, Tang Beisha, Xia Kun, Hu Zhengmao, Shen Lu, Tang Jianguang, Zhao Guohua, Zhang Yuhu, Cai Fang, Pan Qian, Long Zhigao, Wang Guo, Dai Heping
Abstract excerpt
Ataxia telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, elevated alpha-fetoprotein level, chromosomal instability, predisposition to cancer, and radiation sensitivity. Although a lot of mutations in the ATM gene have been described, there is still no report about ATM mutations in Chinese population. Using a molecular approach, we...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.