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Article

Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.

Neuromolecular medicine - 1 Sept 2011

Soukupova Jana, Pohlreich Petr, Seemanova Eva

Abstract excerpt

Ataxia telangiectasia (AT) is a genomic instability syndrome characterised, among others, by progressive cerebellar degeneration, oculocutaneous telangiectases, immunodeficiency, elevated serum alpha-phetoprotein level, chromosomal breakage, hypersensitivity to ionising radiation and increased cancer risk. This autosomal recessive disorder is caused by mutations in the ataxia telangiectasia mutated (ATM) gene...

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Source

Identifiers

PMID: 21833744
DOI: 10.1007/s12017-011-8152-z

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.

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Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients.PMID 21833744Read ↗

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