A novel missense mutation in the antithrombin III gene (Ala387-->Val) causing recurrent venous thrombosis.
White
D
D
Charter Molecular Genetics Laboratory, Thrombosis Research Institute, London, UK.
Abraham
G
G
Carter
C
C
Kakkar
V V
VV
Cooper
D N
DN
D000328:Adult; D000409:Alanine / Q000235:genetics*; D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D012008:Recurrence; D013924:Thrombophlebitis / Q000235:genetics*; D014633:Valine / Q000235:genetics*
D000990:Antithrombin III; D014633:Valine; D000409:Alanine