Article
Lack of F8 mRNA: a novel mechanism leading to hemophilia A.
Blood - 1 Apr 2006
El-Maarri Osman, Singer Heike, Klein Claudia, Watzka Matthias, Herbiniaux Ursula, Brackmann Hans H, Schröder Jörg, Graw Jochen, Müller Clemens R, Schramm Wolfgang, Schwaab Rainer, Haaf Thomas, Hanfland Peter, Oldenburg Johannes
Abstract excerpt
Hemophilia A (HA) is caused by partial or total deficiency of F8 protein activity. In a small group, about 1.8% of patients with HA, no mutation is found in the F8 gene. Among this group, we report here on one patient with severe HA in whom no mRNA of the F8 gene was detected. Using 2 common polymorphisms in F8 exon 14, we were able to show that the same allele shared by the patient, his mother, and his sister...
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