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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Detalles Bibliográficos
Autores principales: Chen, Zhao, Ye, Wei, Long, Zhe, Ding, Dongxue, Peng, Huirong, Hou, Xuan, Qiu, Rong, Xia, Kun, Tang, Beisha, Jiang, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4595474/
https://www.ncbi.nlm.nih.gov/pubmed/26439923
http://dx.doi.org/10.1371/journal.pone.0139738

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