title: Severe factor XI deficiency in a Lebanese family: identification of a novel missense mutation (Trp501Cys) in the catalytic domain.
abstract: In this study, a Lebanese woman with severe factor XI deficiency as well as several unaffected family members were analysed. The F11 gene was screened by polymerase chain reaction amplification of all 15 exons, including intron-exon junctions followed by single-strand conformational analysis. Variant single-strand conformational analysis profiles were obtained for exon 13; sequencing of these products allowed the identification of a novel missense mutation (Trp501Cys) situated in the catalytic domain, in homozygosity in the proband.
authors.affiliation: Haemostasis Unit, Geneva University Hospital, Switzerland. philippe.deMoerloose@hcuge.ch
authors.forename: Philippe
authors.initials: P
authors.lastname: de Moerloose
authors.forename: Myrna
authors.initials: M
authors.lastname: Germanos-Haddad
authors.forename: Françoise
authors.initials: F
authors.lastname: Boehlen
authors.forename: Marguerite
authors.initials: M
authors.lastname: Neerman-Arbez
mesh_terms: D000328:Adult; D020134:Catalytic Domain; D004252:DNA Mutational Analysis / Q000379:methods; D005091:Exons; D005173:Factor XI Deficiency / Q000235:genetics*; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007861:Lebanon; D020125:Mutation, Missense