A common point mutation producing type 1A antithrombin III deficiency: AT129 CGA to TGA (Arg to Stop).
Olds
R J
RJ
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford.
Lane
D A
DA
Ireland
H
H
Finazzi
G
G
Barbui
T
T
Abildgaard
U
U
Girolami
A
A
Thein
S L
SL
D000990:Antithrombin III / Q000235:genetics*; D020152:Antithrombin III Deficiency; D001483:Base Sequence; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D013923:Thromboembolism / Q000235:genetics*
D000990:Antithrombin III