Antithrombin III-Amiens: a new family with an Arg47----Cys inherited variant of antithrombin III with impaired heparin cofactor activity.
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.
Roussel
B
B
Laboratoire d'Hématologie, Centre Hospitalier Régional D'Amiens, France.
Dieval
J
J
Delobel
J
J
Fernandez-Rachubinski
F
F
Eng
B
B
Rachubinski
R A
RA
Blajchman
M A
MA
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
D000990:Antithrombin III; D004247:DNA