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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Detalles Bibliográficos
Autores principales: Huang, Yu, Yang, Lu, Wang, Jianchun, Yang, Fan, Xiao, Ying, Xia, Rongjun, Yuan, Xianhou, Yan, Mingshan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2013
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3732755/
https://www.ncbi.nlm.nih.gov/pubmed/23807571
http://dx.doi.org/10.1007/s12017-013-8240-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3732755/
https://www.ncbi.nlm.nih.gov/pubmed/23807571
http://dx.doi.org/10.1007/s12017-013-8240-3

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