Article
Molecular characterization of five Italian families with inherited severe factor XIII deficiency.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jan 2008
Castaman G, Giacomelli S H, Ivaskevicius V, Schroeder V, Kohler H P, Dragani A, Biasioli C, Oldenburg J, Madeo D, Rodeghiero F
Abstract excerpt
Factor XIII (FXIII) deficiency is a very rare (1:2 000 000) severe autosomal recessive bleeding disorder, mostly due to mutations in the coagulation FXIII A-subunit gene. We have studied the molecular basis of FXIII deficiency in five unrelated Italian families. The coding region, intron-exon boundaries and 5'- and 3'-untranslated regions of the FXIII gene encoding the A subunit were amplified and directly...
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