Article
Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene.
Journal of thrombosis and haemostasis : JTH - 1 Feb 2005
El-Maarri O, Herbiniaux U, Graw J, Schröder J, Terzic A, Watzka M, Brackmann H H, Schramm W, Hanfland P, Schwaab R, Müller C R, Oldenburg J
Abstract excerpt
BACKGROUND: haemophilia A (HA) is characterized by partial or total deficiency of factor VIII (FVIII) protein activity. It is caused by a broad spectrum of mutations in the FVIII gene. Despite tremendous improvements in mutation screening methods, in about 2% of HA patients no DNA change could be found, even after sequencing the whole coding part of the FVIII gene including the flanking splice sites, as well as...
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