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

• Published in: Thrombosis and haemostasis Vol. 107; no. 1; p. 44
• Main Authors: Guéguen, Paul, Chauvin, Angélique, Quémener-Redon, Sylvia, Pan-Petesch, Brigitte, Férec, Claude, Abgrall, Jean-François, Le Maréchal, Cédric
• Format: Journal Article
• Language: English
• Published: Germany 01.01.2012
• Subjects: Adolescent; Adult; Aged; Alleles; Blood Coagulation; Chromosome Deletion; Chromosomes, Human, Pair 4 - genetics; Comparative Genomic Hybridization; DNA Mutational Analysis; Exons; Factor XI Deficiency - epidemiology; Factor XI Deficiency - genetics; Female; France; Gene Rearrangement; Heterozygote; Humans; Male; Middle Aged; Models, Genetic; Molecular Epidemiology - methods; Mutation; Telomere - ultrastructure; France

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 com...