Article
Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2010
Riccardi F, Tagliaferri A, Martorana D, Rivolta G F, Valdrè L, Rodorigo G, Biasoli C, D'Incà M, Serino M L, Macchi S, Vincenzi D, Arbasi M, Pedrazzi P, Volta M, DI Perna C, Ippolito L, Savi M, Neri T M
Abstract excerpt
SUMMARY: Haemophilia A (HA) is an X-linked recessive bleeding disorder caused by a lack or decrease of coagulation factor VIII activity. The molecular diagnosis of HA is challenging and a variety of different mutations have been identified throughout the F8 gene. Our aim was to detect the causative mutation in 266 HA patients from Emilia-Romagna region (Italy) and in all suspected carriers. Molecular analysis of...
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