title: A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.
authors.affiliation: Laboratoire de Biochimie Génétique, INSERM U249/CNRS UPR 9008, Montpellier, France.
authors.forename: P
authors.initials: P
authors.lastname: Aguilar-Martinez
authors.forename: M C
authors.initials: MC
authors.lastname: Romey
authors.forename: J C
authors.initials: JC
authors.lastname: Gris
authors.forename: J F
authors.initials: JF
authors.lastname: Schved
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D000328:Adult; D001483:Base Sequence; D001665:Binding Sites; D004252:DNA Mutational Analysis; D005164:Factor IX / Q000737:chemistry / Q000235:genetics*; D005602:France; D005796:Genes; D002836:Hemophilia B / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D005164:Factor IX