title: Homozygosity for a Thr575Met missense mutation in the catalytic domain associated with factor XI deficiency.
abstract: In this study we investigated an asymptomatic 55-year-old Lebanese woman with factor XI deficiency. The F11 gene was analyzed and a cross reacting material positive (CRM+) variant, Thr575Met, was identified in homozygosity in the proband, and in heterozygosity in four of her siblings.
authors.forename: Myrna
authors.initials: M
authors.lastname: Germanos-Haddad
authors.forename: Philippe
authors.initials: P
authors.lastname: de Moerloose
authors.forename: Françoise
authors.initials: F
authors.lastname: Boehlen
authors.forename: Flora
authors.initials: F
authors.lastname: Peyvandi
authors.forename: Marguerite
authors.initials: M
authors.lastname: Neerman-Arbez
mesh_terms: D020134:Catalytic Domain; D005172:Factor XI / Q000235:genetics; D005173:Factor XI Deficiency / Q000235:genetics*; D005192:Family Health; D005260:Female; D006720:Homozygote; D006801:Humans; D007861:Lebanon; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree
chemical_list: D005172:Factor XI