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Article

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.

Human mutation - 1 Jan 1997

Concannon P, Gatti R A

Abstract excerpt

The ataxia-telangiectasia mutated (ATM) gene, which is mutated in the autosomal recessive disorder ataxia-telangiectasia (AT), was isolated in 1995 by positional cloning. Although in vitro cell fusion studies had suggested that AT was genetically heterogeneous, all AT patients studied to date have been found to harbor mutations in the ATM gene. More that 100 ATM mutations occurring in AT patients have been...

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Identifiers

PMID: 9259193
DOI: 10.1002/(SICI)1098-1004(1997)10:2<100::AID-HUMU2>3.0.CO;2-O

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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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