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Article

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

American journal of human genetics - 1 Oct 1996

Wright J, Teraoka S, Onengut S, Tolun A, Gatti R A, Ochs H D, Concannon P

Abstract excerpt

The clinical features of the autosomal recessive disorder ataxia-telangiectasia (AT) include a progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and an increased susceptibility to malignancies. Epidemiological studies have suggested that AT heterozygotes may also be at increased risk for malignancy, possibly as a consequence of radiation exposure. A gene mutated in AT patients (ATM) has...

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Source

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Identifiers

PMID: 8808599
PMCID: PMC1914811

Genes

ATM

Provenance

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.

Related research

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A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.PMID 8808599Read ↗

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New mutations in the ATM gene and clinical data of 25 AT patients.Semantic proximity Read ↗

New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy.Semantic proximity Read ↗

Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia.Semantic proximity Read ↗

Functional classification of ATM variants in ataxia‐telangiectasia patientsSemantic proximity Read ↗

A single ataxia telangiectasia gene with a product similar to PI-3 kinase.Semantic proximity Read ↗

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

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.Semantic proximity Read ↗

Clinical Characterization and Mutation Analysis of 13 Iranian Ataxia-Telangiectasia Patients: Introducing Three Novel MutationsSemantic proximity Read ↗

Erratum to: Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia PatientsSemantic proximity Read ↗

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