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Article

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

American journal of human genetics - 1 Mar 1998

Gilad S, Chessa L, Khosravi R, Russell P, Galanty Y, Piane M, Gatti R A, Jorgensen T J, Shiloh Y, Bar-Shira A

Abstract excerpt

Ataxia-telangiectasia (A-T) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, chromosomal instability, radiosensitivity, and cancer predisposition. A-T cells are sensitive to ionizing radiation and radiomimetic chemicals and fail to activate cell-cycle checkpoints after treatment with these agents. The responsible gene, ATM, encodes a large protein kinase with a...

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Identifiers

PMID: 9497252
DOI: 10.1086/301755
PMCID: PMC1376949

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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