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Inheritable molecular variants of moderate and mild hemophilia A.

作者信息

Ljung R, Holmberg L, Nilsson I M

出版信息

Acta Med Scand. 1981;209(1-2):11-6. doi: 10.1111/j.0954-6820.1981.tb11544.x.

Abstract

Factor VIII clotting activity (VIII:C) and factor VIII clotting antigen (VIII:CAg) were investigated in 54 patients with hemophilia A of moderate or mild severity. The patients belonged to 28 kindreds. The study showed a genetically determined molecular variation within hemophilia A of both moderate and mild forms. Each form can be classified into 3 types according to the content of demonstrable VIII:CAg. Type I has no demonstrable VIII:CAg, type IIa has VIII:CAg in an amount smaller than, or approximately equal to, that of VIII:C and type IIb has a larger amount of VIII:CAg than VIII:C. Affected members of one and the same kindred always have the same type of the disease.

摘要

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