Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein.
Chen
Tsai-Yun
TY
Lin
Tsun-Mei
TM
Chen
Hsiao-Yen
HY
Wu
Chiy-Lin
CL
Tsao
Chao-Jung
CJ
D000328:Adult; D003001:Cloning, Molecular; D005165:Factor V / Q000235:genetics* / Q000378:metabolism; D005166:Factor V Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree
D005165:Factor V