title: Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.
abstract: In this study, we reinvestigated a 20-year-old woman, the first cousin of two brothers with severe haemophilia A. This patient was previously assumed to be a carrier of haemophilia A due to her FVIII deficiency. We identified a novel FVIII gene mutation in the family and demonstrated that the FVIII deficiency in this female patient did not result from this gene mutation, but was linked to molecular defects in the von Willebrand factor gene.
authors.affiliation: Département de Développement Préclinique, Laboratoire français du Fractionnement et des Biotechnologies, Lille, France. mazurier@lfb.fr
authors.forename: Claudine
authors.initials: C
authors.lastname: Mazurier
authors.forename: Armelle
authors.initials: A
authors.lastname: Parquet-Gernez
authors.forename: Christine
authors.initials: C
authors.lastname: Gaucher
authors.forename: Jean-Maurice
authors.initials: JM
authors.lastname: Lavergne
authors.forename: Jenny
authors.initials: J
authors.lastname: Goudemand
mesh_terms: D000328:Adult; D004303:Dosage Compensation, Genetic; D005169:Factor VIII / Q000378:metabolism; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011485:Protein Binding; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics* / Q000378:metabolism
chemical_list: D014841:von Willebrand Factor; D005169:Factor VIII