Article
Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.
PloS one - 1 Jan 2015
Chen Zhao, Ye Wei, Long Zhe, Ding Dongxue, Peng Huirong, Hou Xuan, Qiu Rong, Xia Kun, Tang Beisha, Jiang Hong
Abstract excerpt
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 disease-causing variants in three probands, including two pairs of heterozygous variants (FAT-1:c.4396C>T/p.R1466X,...
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