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Article

Discordant diagnoses obtained by different approaches in antithrombin mutation analysis.

Clinical biochemistry - 1 Sept 2014

Feddersen Søren, Nybo Mads

Abstract excerpt

OBJECTIVES: In hereditary antithrombin (AT) deficiency it is important to determine the underlying mutation since the future risk of thromboembolism varies considerably between mutations. DNA investigations are in general thought of as flawless and irrevocable, but the diagnostic approach can be critical. We therefore investigated mutation results in the AT gene, SERPINC1, with two different approaches. DESIGN...

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Identifiers

PMID: 24956267
DOI: 10.1016/j.clinbiochem.2014.06.013

Genes

SERPINC1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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