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Factor VII deficiency: immunological characterization of genetic variants and detection of carriers.

作者信息

Mariani G, Mazzucconi M G, Hermans J, Ciavarella N, Faiella A, Hassan H J, Mannucci P M, Nenci G G, Orlando M, Romoli D, Mandelli F

出版信息

Br J Haematol. 1981 May;48(1):7-14. doi: 10.1111/j.1365-2141.1981.00007.x.

DOI:10.1111/j.1365-2141.1981.00007.x
PMID:7248191
Abstract

Twenty-one patients with congenital factor VII deficiency belonging to 16 different kindreds were investigated. The existence of three immunochemical variants on the ground of factor VII activity (VII:C) and factor VII-related antigen (VII:Ag) levels (VII-, VII+ and VIIR) was established. There was no correlation between the presence of factor VII:Ag and either the clinical picture or the specific function as studied with the Km calculations. Genetically the model of inheritance is the same whatever the immunological variant, but the identification of carriers is simplified when the presence of factor VII-related antigen is assayed throughout a kindred.

摘要

相似文献

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引用本文的文献

1
Studies on a family with the factor VII defect.关于因子VII缺陷家族的研究。
Blut. 1983 Jan;46(1):47-55. doi: 10.1007/BF00320004.