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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...

תיאור מלא

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מידע ביבליוגרפי
Main Authors: Huang, Yu, Yang, Lu, Wang, Jianchun, Yang, Fan, Xiao, Ying, Xia, Rongjun, Yuan, Xianhou, Yan, Mingshan
פורמט: Artigo
שפה:Inglês
יצא לאור: Springer US 2013
נושאים:
גישה מקוונת: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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