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Article

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jan 2006

Quélin Florence, Mathonnet Florence, Potentini-Esnault Catherine, Trigui Nawel, Peynet Jocelyne, Bastenaire Brigitte, Guillon Laurent, Bigel Marie-Laure, Sauger Annick, Mazurier Claudine, de Mazancourt Philippe

Abstract excerpt

Factor XI (FXI) deficiency is an inherited autosomal recessive disorder associated with bleeding of variable severity. However, many cases of dominant disease transmission have been recently described. This disorder is rare in the general population, whereas it is commonly found in individuals of Ashkenazi Jewish ancestry. This study reports the molecular genetic analysis of FXI deficiencies in 11 unrelated...

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PMID: 16607084
DOI: 10.1097/01.mbc.0000198054.50257.96

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Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.PMID 16607084Read ↗

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