Molecular basis of inherited human antithrombin deficiency.
Figures 1 and 4 summarize the various AT mutations that have been described. The molecular elucidation, over the past decade, of the various AT deficiency types has provided important new insights into functional-structural relationships of AT. This knowledge, together with data provided by monoclonal antibodies and x-ray crystallographic studies of related molecules, has provided important new insights as to how the AT molecule functions in vivo. Finally, such knowledge might, in the foreseeable future, lead to the production of AT molecules that are specifically genetically engineered to be of use in a variety of clinical situations.
Blajchman
M A
MA
Canadian Red Cross Society Blood Transfusion Service, Hamilton, Ontario.
Austin
R C
RC
Fernandez-Rachubinski
F
F
Sheffield
W P
WP
D000483:Alleles; D000595:Amino Acid Sequence; D000991:Antithrombins / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D001665:Binding Sites; D006801:Humans; D009154:Mutation; D013917:Thrombin / Q000378:metabolism
D000991:Antithrombins; D013917:Thrombin