Modifier genes in haemophilia: their expansion in the human genome
作者： E. F. TIZZANO , M. CORNET , M. DOMENECH , M. BAIGET
DOI: 10.1046/J.1365-2516.2002.00623.X
关键词:
摘要: Mutations in factor VIII and IX genes have a determinant effect on the severity of haemophilia. Modulation clinical manifestations depends other genetic factors, including modifier genes. In context haemophilia, such could be ones involved thrombophilia. Factor V Leiden prothrombin 20210A were studied as possible phenotypic modifiers. Inhibitor development after therapeutic replacement type mutation factors related to immune response each patient. The study all these variants haemophiliacs constitutes an important step prevention, prognosis alternatives disease.
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