Article
Methylation analysis of the promoter region and intron 1 of the factor VIII gene in haemophilia A patients.
Hamostaseologie - 1 Jan 2013
Zimmermann M A, Hansmann T, Haaf T, Oldenburg J, Müller C R, Rost S
Abstract excerpt
Methylation, CpG island, promoter, intron 1 Haemophilia A is the most common X-linked inherited coagulation disorder caused by a deficiency of the factor VIII protein (FVIII). A plethora of different mutations in the factor VIII gene (F8) have been identified as causative for this bleeding disease including a few promoter mutations. However, in approximately 2-5% of all haemophilic patients, the causal mutation...
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