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Factor XIII Deficiency
Four novel mutations in deficiency of coagulation factor XIII: consequences to expression and structure of the A-subunit.
Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.
Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
Gene defects in congenital factor XIII deficiency.
Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.
Factor V Deficiency