Factor V deficiency caused by a novel missense mutation, Ile417Thr, in the A2 domain.
Kling
S J
SJ
Griffee
M
M
Flanders
M M
MM
Rodgers
G M
GM
D019943:Amino Acid Substitution; D005165:Factor V / Q000737:chemistry / Q000235:genetics*; D005166:Factor V Deficiency / Q000097:blood / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017434:Protein Structure, Tertiary
D005165:Factor V