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Article

Factor XI gene mutations in factor XI deficient patients of the Czech Republic.

American journal of hematology - 1 Dec 2008

Castaman Giancarlo, Giacomelli Sofia H, Habart David, Asselta Rosanna, Duga Stefano, Rodeghiero Francesco

Abstract excerpt

Factor XI (FXI) deficiency is an autosomal inherited coagulation disorder characterized by bleeding symptoms mainly associated with injury or surgery. Although most of the FXI gene mutations in Ashkenazi Jews are represented by the Glu117stop or Phe283Leu mutations, considerable genetic heterogeneity has been reported in other populations. We report here the genotypic characterization of four families with severe...

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Identifiers

PMID: 18839438
DOI: 10.1002/ajh.21286

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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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