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Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain

de Moerloose, P.; Germanos-Haddad, M.; Boehlen, Fçoise.; Neerman-Arbez, M.

Blood Coagulation and Fibrinolysis An International Journal in Haemostasis and Thrombosis 15(3): 269-272

2004

ISSN/ISBN: 0957-5235
PMID: 15060426
Document Number: 577347
In this study, a Lebanese woman with severe factor XI deficiency as well as several unaffected family members were analysed. The F1 1 gene was screened by polymerase chain reaction amplification of all 15 exons, including intron-exon junctions followed by single-strand conformational analysis. Variant single-strand conformational analysis profiles were obtained for exon 13; sequencing of these products allowed the identification of a novel missense mutation (Trp501Cys) situated in the catalytic domain, in homozygosity in the proband. Copyright 2004 Lippincott Williams & Wilkins.

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