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[Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].

Zhonghua yi xue za zhi - 27 Apr 2005

Jiang Hong, Tang Bei-sha, Hu Zheng-mao, Xia Kun, Xu Bo, Tang Jian-guang

Abstract excerpt

OBJECTIVE: To investigate the clinical manifestation and mutation characteristics of ATM gene in Chinese patients with ataxia-telangiectasia (AT). METHODS: Sequence variants of the entire coding exons of ATM gene were tested using polymerase chain reaction (PCR), reverse transcription-polymerase chain reaction (RT-PCR), polyacrylamide gel electrophoresis (PAGE) and DNA direct sequencing in two Chinese patients...

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Identifiers

PMID: 16029571

Genes

ATM
AFP

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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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