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Article

Factor XI deficiency: two novel mutations in asymptomatic Italian patients.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2010

Tomaiuolo M, Favuzzi G, Cappucci F, Pisanelli D, Tiscia G L, Musto P, Scaraggi F A, Cincione R I, Margaglione M, Grandone E

Abstract excerpt

SUMMARY: Factor XI (FXI) deficiency is a rare bleeding disorder, resulting in a wide range of bleeding manifestations, from asymptomatic bleeding to injury-related bleeding. To identify mutations in FXI-deficient patients and to establish a possible relationship between clinical phenotype and genotype, we studied two patients from Southern Italy with FXI deficiency. They were identified by presurgical or routine...

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Identifiers

PMID: 20491955
DOI: 10.1111/j.1365-2516.2010.02241.x

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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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