title: Antithrombin III-Amiens: a new family with an Arg47----Cys inherited variant of antithrombin III with impaired heparin cofactor activity.
abstract: A family with an antithrombin III variant (AT-III-Amiens) demonstrating abnormal heparin cofactor activity is described. Amplification and direct sequencing of genomic DNA by the polymerase chain reaction procedure permitted the identification of an Arg47----Cys mutation in exon 2 of the variant antithrombin III gene.
authors.affiliation: Laboratoire d'Hématologie, Centre Hospitalier Régional D'Amiens, France.
authors.forename: B
authors.initials: B
authors.lastname: Roussel
authors.forename: J
authors.initials: J
authors.lastname: Dieval
authors.forename: J
authors.initials: J
authors.lastname: Delobel
authors.forename: F
authors.initials: F
authors.lastname: Fernandez-Rachubinski
authors.forename: B
authors.initials: B
authors.lastname: Eng
authors.forename: R A
authors.initials: RA
authors.lastname: Rachubinski
authors.forename: M A
authors.initials: MA
authors.lastname: Blajchman
mesh_terms: D000328:Adult; D000483:Alleles; D000990:Antithrombin III / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D001483:Base Sequence; D001780:Blood Coagulation Tests; D004247:DNA / Q000032:analysis; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction
chemical_list: D000990:Antithrombin III; D004247:DNA