title: Molecular characterization of factor X deficiency associated with borderline plasma factor X level.
abstract: Borderline plasma factor X (FX) levels might complicate the diagnosis of FX deficiency. An asymptomatic individual with 73% FX activity was identified to be heterozygous for the Val342Ala mutation. Expression studies suggested that this substitution is responsible for a CRM+ FX variant with normal activation but modestly reduced catalytic function.
authors.forename: Mirko
authors.initials: M
authors.lastname: Pinotti
authors.forename: Monia
authors.initials: M
authors.lastname: Monti
authors.forename: Marcello
authors.initials: M
authors.lastname: Baroni
authors.forename: Giovanna
authors.initials: G
authors.lastname: Marchetti
authors.forename: Francesco
authors.initials: F
authors.lastname: Bernardi
mesh_terms: D005170:Factor X / Q000032:analysis / Q000378:metabolism; D005171:Factor X Deficiency / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D020125:Mutation, Missense
chemical_list: D005170:Factor X