Article
Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A2.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2017
Ivaškevičius V, Biswas A, Garly M-L, Oldenburg J
Abstract excerpt
INTRODUCTION: Congenital factor XIII (FXIII) deficiency is a rare, autosomal recessive bleeding disorder usually caused by mutations in the F13A1 gene that produce a severe quantitative (type I) deficiency of the FXIII-A subunit. AIM: To determine the genotypes of patients with severe FXIII-A deficiency treated with recombinant FXIII-A subunit (rFXIII-A2 ) participating in three international efficacy and safety...
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