Molecular genetics of human antithrombin deficiency.

doi:10.1002/(SICI)1098-1004(1996)7:1<7::AID-HUMU2>3.0.CO;2-B

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Article

Molecular genetics of human antithrombin deficiency.

Human mutation - 1 Jan 1996

Perry D J, Carrell R W

Abstract excerpt

Human antithrombin is the major plasma inhibitor of thrombin both in the presence and absence of heparin. Its physiological importance is emphasised by the recurrent thromboses that individuals with a deficient or functionally abnormal protein are prone to develop. Such deficiencies are estimated...

Topics

Antithrombins
Base Sequence
Genetic Variation
Humans
Models, Molecular
Molecular Sequence Data
Molecular Structure
Mutation
Polymorphism, Genetic
Thromboembolism

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