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Article

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

Journal of neurology - 1 Oct 2010

Silvestri Gabriella, Masciullo Marcella, Piane Maria, Savio Camilla, Modoni Anna, Santoro Massimo, Chessa Luciana

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Source

Identifiers

PMID: 20480175
DOI: 10.1007/s00415-010-5583-7

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.PMID 20480175Read ↗

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

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The hallmarks of aging in Ataxia-TelangiectasiaSemantic proximity Read ↗

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ATAXIA-telangiectasia with compound heterozygous ATM mutations discovered on abnormal newborn screen.Semantic proximity Read ↗

Ataxia telangiectasia syndrome: moonlighting ATM.Semantic proximity Read ↗

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.Semantic proximity Read ↗

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