Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia and immunodeficiency due to mutations in the ATM gene. We performed targeted next-generation sequencing (NGS) on three unrelated patients and identified five dis...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Chen, Zhao, Ye, Wei, Long, Zhe, Ding, Dongxue, Peng, Huirong, Hou, Xuan, Qiu, Rong, Xia, Kun, Tang, Beisha, Jiang, Hong
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4595474/
https://ncbi.nlm.nih.gov/pubmed/26439923
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0139738
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