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Article

Characterization of four novel molecular changes in the promoter region of the factor VIII gene.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2014

Nougier C, Roualdes O, Fretigny M, d'Oiron R, Costa C, Negrier C, Vinciguerra C

Abstract excerpt

Haemophilia A (HA) is an X-linked recessive bleeding disorder, caused by a wide variety of mutations in the factor VIII (F8) gene, leading to deficiency in the activity of coagulation FVIII. These mutations can affect all the F8 exons from the initiation codon to the termination codon, however, only few molecular changes in the promoter region of the F8 gene were reported so far. Here, we describe six nucleotide...

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PMID: 24372689
DOI: 10.1111/hae.12346

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