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[ATM gene mutations in Chinese patients with ataxia telangiectasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2005

Jiang Hong, Tang Beisha, Hu Zhengmao, Xia Kun, Xu Bo, Tang Jianguang, Shen Lu

Abstract excerpt

OBJECTIVE: To investigate the mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT). METHODS: Mutation of ATM gene was screened by polymerase chain reaction, reverse transcription-polymerase chain reaction, polyacrylamide gel electrophoresis combined with DNA direct sequencing in two Chinese AT patients. RESULTS: A missense mutation of 1346(G>C) in exon 11, which was a...

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Identifiers

PMID: 15793768

Genes

ATM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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