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Article

Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).

Thrombosis and haemostasis - 1 Jan 2012

Guéguen Paul, Chauvin Angélique, Quémener-Redon Sylvia, Pan-Petesch Brigitte, Férec Claude, Abgrall Jean-François, Le Maréchal Cédric

Abstract excerpt

Constitutional deficiency in factor XI (FXI) is a rare bleeding disorder in the general population, with the exception of Ashkenazi Jews. During the last decade, the detection of FXI-deficient patients has shifted from clinical screening identifying mostly severe bleeders to biological screening combining findings of prolonged activated partial thromboplastin time and FXI coagulation activity (FXI:C) below 50...

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Identifiers

PMID: 22159456
DOI: 10.1160/TH11-06-0415
PMCID: PMC3399784

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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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