Article
Sequencing of the factor 8(F8) coding regions in 10 Turkish hemophilia A patients reveals three novel pathological mutations, and one rediagnosis of von Willebrand's disease type 2N.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2006
Berber E, Fidanci I D, Un C, El-Maarri O, Aktuglu G, Gurgey A, Celkan T, Meral A, Oldenburg J, Graw J, Akar N, Caglayan H
Abstract excerpt
The most common cause for severe cases of hemophilia A is the homologous recombination involving intron 22 and related sequences outside the F8 gene. F8 coding regions of the gene including the exon/intron junctions were sequenced in 10 Turkish hemophilia A patients all of whom have been typed negative for intron 22 inversion and who did not have a detectable change by DGGE analysis. Pathological changes...
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