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Article

The spectrum of factor XI deficiency in Italy.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2014

Castaman G, Giacomelli S H, Caccia S, Riccardi F, Rossetti G, Dragani A, Giuffrida A C, Biasoli C, Duga S

Abstract excerpt

Factor XI (FXI) deficiency is a rare inherited bleeding disorder invariably caused by mutations in the FXI gene. The disorder is rather frequent in Ashkenazi Jews, in whom around 98% of the abnormal alleles is represented by Glu117X and Phe283Leu mutations. A wide heterogeneity of causative mutations has been previously reported in a few FXI deficient patients from Italy. In this article, we enlarge the knowledge...

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Identifiers

PMID: 24112640
DOI: 10.1111/hae.12257

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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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