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Article

Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.

Journal of neurology - 1 Aug 1999

Hassin-Baer S, Bar-Shira A, Gilad S, Galanty Y, Khosravi R, Lossos A, Giladi N, Weitz R, Ben-Zeev B, Goldhammer Y, Shiloh Y

Abstract excerpt

Ataxia-telangiectasia (AT) is an autosomal recessive multisystem disorder presenting in childhood with progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, radiosensitivity, and cancer predisposition. The gene for AT, designated ATM (AT, mutated) encodes a protein with...

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Source

Identifiers

PMID: 10460451
DOI: 10.1007/s004150050438

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10460451-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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Absence of mutations in ATM, the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia.PMID 10460451Read ↗

Ataxia telangiectasia.Semantic proximity Read ↗

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

Predominance of null mutations in ataxia-telangiectasia.Semantic proximity Read ↗

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

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

Genotype-phenotype relationships in ataxia-telangiectasia and variants.Semantic proximity Read ↗

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.Semantic proximity Read ↗

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

Molecular pathology of ataxia telangiectasia.Semantic proximity Read ↗

The genetic defect in ataxia-telangiectasia.Semantic proximity Read ↗

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Clinical spectrum of ataxia-telangiectasia in adulthood.Semantic proximity Read ↗

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