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Article

Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia.

Clinical and experimental immunology - 1 Mar 2001

García-Pérez M A, Allende L M, Corell A, Varela P, Moreno A A, Sotoca A, Moreno A, Paz-Artal E, Barreiro E, Arnaiz-Villena A

Abstract excerpt

Three ataxia telangiectasia (AT) patients have been characterized immunologically and molecularly. Patient 1 presents two nondescribed splicing mutations which affect exons 15 and 21 of the ATM gene. The maternal defect consists of a G > A transition in the first nucleotide of the intron 21 donor...

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Source

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Identifiers

PMID: 11298136
DOI: 10.1046/j.1365-2249.2001.01452.x
PMCID: PMC1906002

Genes

ATM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11298136-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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