Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
نویسندگان
چکیده
Factor XI (FXI) deficiency is a rare coagulation disorder associated with bleeding of variable severity but without a clear relationship between bleeding and FXI levels. This study reports the molecular genetic analysis of FXI deficiencies in thirteen patients. Six novel missense mutations were identified: P23L, P69T, C92G, E243D, W497C and E547K.
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متن کاملCharacterization of seven novel mutations causing factor XI deficiency.
BACKGROUND AND OBJECTIVES Factor XI (FXI) deficiency is a rare autosomal recessive disorder, the main manifestation of which is injury-related bleeding. The disorder is rare in most populations, but common among Jews in whom two mutations, E117X and F283L, account for 98% of cases. Other mutations, C38R and C128X, are prevalent in French Basques and Britons, respectively. Additional sporadic mu...
متن کاملFactor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene.
Inherited factor XI deficiency is an injury-related bleeding disorder that is rare in most populations except for Jews, in whom 2 mutations, a stop mutation in exon 5 (type II) and a missense mutation in exon 9 (type III), predominate. Recently, a cluster of 39 factor XI-deficient patients was described in the Basque population of Southwestern France. In this study, we determined the molecular ...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene
Inherited factor XI deficiency is an injuryrelated bleeding disorder that is rare in most populations except for Jews, in whom 2 mutations, a stop mutation in exon 5 (type II) and a missense mutation in exon 9 (type III), predominate. Recently, a cluster of 39 factor XI–deficient patients was described in the Basque population of Southwestern France. In this study, we determined the molecular b...
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عنوان ژورنال:
- Haematologica
دوره 90 8 شماره
صفحات -
تاریخ انتشار 2005