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Article

Modifier genes in haemophilia: their expansion in the human genome.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2002

Tizzano E F, Cornet M, Domènech M, Baiget M

Abstract excerpt

Mutations in factor VIII and IX genes have a determinant effect on the severity of haemophilia. Modulation of clinical manifestations depends on other genetic factors, including modifier genes. In the context of haemophilia, such genes could be the ones involved in thrombophilia. Factor V Leiden and prothrombin 20210A were studied as possible phenotypic modifiers. Inhibitor development after therapeutic factor...

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Identifiers

PMID: 12010419
DOI: 10.1046/j.1365-2516.2002.00623.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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