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Article

Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium.

American journal of human genetics - 1 Dec 2000

Bonnen P E, Story M D, Ashorn C L, Buchholz T A, Weil M M, Nelson D L

Abstract excerpt

Genetic variation in the human population may lead to functional variants of genes that contribute to risk for common chronic diseases such as cancer. In an effort to detect such possible predisposing variants, we constructed haplotypes for a candidate gene and tested their efficacy in associatio...

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Identifiers

PMID: 11078475
DOI: 10.1086/316908
PMCID: PMC1287921

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-11078475-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium.PMID 11078475Read ↗

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Five haplotypes account for fifty-five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: seven new mutations.Semantic proximity Read ↗

ATM haplotypes and breast cancer risk in Jewish high-risk women.Semantic proximity Read ↗

ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.Semantic proximity Read ↗

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.Semantic proximity Read ↗

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