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Article

Diagnosis of ataxia telangiectasia with the glycophorin A somatic mutation assay.

Genetic testing - 1 Jan 2000

Grant S G, Reeger W, Wenger S L

Abstract excerpt

There are no widely applied definitive laboratory tests for the diagnosis of ataxia telangiectasia (AT). We, and others, have previously reported significantly elevated levels of in vivo somatic mutation in blood samples from known AT patients, observations that might form the basis for a useful prospective laboratory test for confirmation of a clinical diagnosis of AT. In the present case, a 4 1/2-year-old black...

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Identifiers

PMID: 10464655
DOI: 10.1089/gte.1997.1.261

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AFP

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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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