title: Heterozygous factor XI deficiency associated with three novel mutations.
abstract: To determine the utility of single-stranded conformation polymorphism (SSCP) analysis for screening mutations in the factor XI (fXI) gene, we investigated three patients with heterozygous factor XI deficiency. DNA sequence analysis confirmed three novel mutations; a CGC --> TGC (Arg308Cys) mutation in exon 9, a GCT-->GTT (Ala412Val) mutation in exon 11 and an AGC --> AGA (Ser576Arg) mutation in exon 15. We postulated on the structural implications of these missense mutations. Our results demonstrated that genotypic analysis is a useful tool for conclusive differentiation between heterozygous factor XI deficiency and normal subjects.
authors.affiliation: The Haemophilia Centre, St Thomas' Hospital, London.
authors.forename: M
authors.initials: M
authors.lastname: Mitchell
authors.forename: J
authors.initials: J
authors.lastname: Cutler
authors.forename: S
authors.initials: S
authors.lastname: Thompson
authors.forename: G
authors.initials: G
authors.lastname: Moore
authors.forename: E
authors.initials: E
authors.lastname: Jenkins Ap Rees
authors.forename: M
authors.initials: M
authors.lastname: Smith
authors.forename: G
authors.initials: G
authors.lastname: Savidge
authors.forename: A
authors.initials: A
authors.lastname: Alhaq
mesh_terms: D005173:Factor XI Deficiency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational