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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Udgivet i:PLoS One
Main Authors: Chen, Zhao, Ye, Wei, Long, Zhe, Ding, Dongxue, Peng, Huirong, Hou, Xuan, Qiu, Rong, Xia, Kun, Tang, Beisha, Jiang, Hong
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang: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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