mutation FXII Mie-1 (introduction of Cys486) results in the reduced secretion of FXII protein in a Japanese family; a homozygous substitution of G to C at 10587 (cDNA position 1458) in the FXII gene results in a Trp to Cys substitution in the catalytic domain; reduced secretion of FXII protein was due to incorrect folding caused by the introduction of Cys486
