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Article

A frequent polymorphism of the gene mutated in ataxia telangiectasia.

Molecular and cellular probes - 1 Feb 1997

Dörk T, Westermann S, Dittrich O, Twardowski M, Karstens J H, Schmidtke J, Stuhrmann M

Abstract excerpt

The gene mutated in ataxia telangiectasia (AT), the ATM gene, has recently been cloned and shown to encode a multi-domain protein with homology to cell-cycle regulators. We report here an intragenic restriction fragment length polymorphism of the ATM gene that is common in the German population with allele frequencies of 0.56 and 0.44, respectively. Observed heterozygosity approximated 50% in healthy individuals...

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Source

Identifiers

PMID: 9076718
DOI: 10.1006/mcpr.1996.0079

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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A frequent polymorphism of the gene mutated in ataxia telangiectasia.PMID 9076718Read ↗

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.Semantic proximity Read ↗

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ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions.Semantic proximity Read ↗

Ataxia-telangiectasia gene (ATM) mutation heterozygosity in breast cancer: a narrative review.Semantic proximity Read ↗

Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia.Semantic proximity Read ↗

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.Semantic proximity Read ↗

ATM: Functions of ATM Kinase and Its Relevance to Hereditary Tumors.Semantic proximity Read ↗

Identification of germline missense mutations and rare allelic variants in the ATM gene in early-onset breast cancer.Semantic proximity Read ↗

Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.Semantic proximity Read ↗

The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants.Semantic proximity Read ↗

ATM Gene Mutation Detection Techniques and Functional Analysis.Semantic proximity Read ↗

DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations.Semantic proximity Read ↗

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