A novel missense mutation in the antithrombin III gene (Ser349----Pro) causing recurrent venous thrombosis.
Grundy
C B
CB
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
Holding
S
S
Millar
D S
DS
Kakkar
V V
VV
Cooper
D N
DN
D000293:Adolescent; D000328:Adult; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011392:Proline / Q000235:genetics; D012694:Serine / Q000235:genetics; D013924:Thrombophlebitis / Q000235:genetics*
D012694:Serine; D000990:Antithrombin III; D011392:Proline