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

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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Bibliographic Details
Main Authors: Zhao Chen, Wei Ye, Zhe Long, Dongxue Ding, Huirong Peng, Xuan Hou, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4595474?pdf=render

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http://europepmc.org/articles/PMC4595474?pdf=render

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