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Article

Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency.

Human mutation - 1 Jan 2004

Peyvandi Flora, Tagliabue Liliana, Menegatti Marzia, Karimi Mehran, Komáromi Istvan, Katona Eva, Muszbek Laszlo, Mannucci Pier Mannuccio

Abstract excerpt

Factor XIII (FXIII) deficiency is a very rare severe autosomal bleeding disorder with a frequency of 1:2,000,000 in the general population and only a few patients have been genetically characterized so far. We report a phenotype-genotype characterization of 10 unrelated Iranian patients. Two FXIII (transglutaminase) activity assays showed no FXIII activity, except a conserved residual activity in patients...

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PMID: 14695539
DOI: 10.1002/humu.9206

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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