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Article

Novel ATM mutations with ataxia-telangiectasia.

Neuroscience letters - 12 Jan 2016

Liu Xiao-Li, Wang Tian, Huang Xiao-Jun, Zhou Hai-Yan, Luan Xing-Hua, Shen Jun-Yi, Chen Sheng-Di, Cao Li

Abstract excerpt

Ataxia telangiectasia is an autosomal recessive multisystem disorder characterized by progressive cerebellar ataxia with onset in childhood, oculocutaneous telangiectasia, increased serum alpha-fetoprotein, immunodeficiency, chromosomal instability, and radiation hypersensitivity. Ataxia-telangiectasia mutated gene (ATM) is one of the known genes to be associated with ataxia telangiectasia. We reported the...

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Identifiers

PMID: 26628246
DOI: 10.1016/j.neulet.2015.11.036

Genes

ATM

Variants

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