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human factor XII Mie-1

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
Also Known As:
factor XII Mie-1, human; FXII Mie-1, human
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