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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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Bibliografski detalji
Glavni autori: Huang, Yu, Yang, Lu, Wang, Jianchun, Yang, Fan, Xiao, Ying, Xia, Rongjun, Yuan, Xianhou, Yan, Mingshan
Format: Artigo
Jezik:Inglês
Izdano: Springer US 2013
Teme:
Online pristup: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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