Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients

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 responsi...

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Bibliographic Details
Main Authors: Huang, Yu, Yang, Lu, Wang, Jianchun, Yang, Fan, Xiao, Ying, Xia, Rongjun, Yuan, Xianhou, Yan, Mingshan
Format: Artigo
Language:Inglês
Published: Springer US 2013
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Original Paper
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3732755/
https://ncbi.nlm.nih.gov/pubmed/23807571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12017-013-8240-3
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