Identification of intron 1 and intron 22 inversions of factor VIII gene in Serbian patients with hemophilia A

Hemophilia A (HA) is a common X-linked recessive bleeding disease caused by mutations of FVIII gene. Inversion of intron 1 (inv1) and intron 22 (inv22) are recurrent mutations in severe HA, causing 50% of cases. Inv1 has been reported to occur in 2-5% and inv 22 in 45% of severe HA patients. Our...

Full description

Bibliographic Details
Main Authors: Ilić Nina, Krstić Aleksandra, Kuzmanović Miloš, Mićić Dragan, Konstantinidis Nada, Guć-Šćekić Marija
Format: Article
Language:English
Published: Serbian Genetics Society 2013-01-01
Series:Genetika
Subjects:
Online Access:http://www.doiserbia.nb.rs/img/doi/0534-0012/2013/0534-00121301207I.pdf