title: Factor XI deficiency: identification of six novel missense mutations (P23L, P69T, C92G, E243D, W497C and E547K).
abstract: 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.
authors.forename: Florence
authors.initials: F
authors.lastname: Quélin
authors.forename: Dominique
authors.initials: D
authors.lastname: François
authors.forename: Roseline
authors.initials: R
authors.lastname: d'Oiron
authors.forename: Benoît
authors.initials: B
authors.lastname: Guillet
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: de Raucourt
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002675:Child, Preschool; D002874:Chromosome Mapping; D002877:Chromosomes, Human; D005006:Ethnicity; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D020125:Mutation, Missense
chemical_list: D005172:Factor XI