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Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2011

Albánez S, Ruiz-Sáez A, Boadas A, de Bosch N, Porco A

Abstract excerpt

Haemophilia A is caused by mutations in the gene encoding coagulation factor VIII (FVIII). In severe Haemophilia A (sHA), two inversions are responsible for approximately 50% of the genetic alterations (intron 22 and intron 1 inversions). The other mutations are extremely diverse and each affected family generally has its own mutation. Our aim was to detect the genetic alterations present in the FVIII gene (F8)...

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Identifiers

PMID: 21371196
DOI: 10.1111/j.1365-2516.2011.02500.x

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