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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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Autores principales: Huang, Yu, Yang, Lu, Wang, Jianchun, Yang, Fan, Xiao, Ying, Xia, Rongjun, Yuan, Xianhou, Yan, Mingshan
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer US 2013
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Acceso en línea: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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