An additional Glu30Lys substitution in the Gla domain of the protein Z gene is not a common polymorphism but a rare mutation, which would cause its deficiency.
Iwata
H
H
Souri
M
M
Kemkes-Matthes
B
B
Ichinose
A
A
D019943:Amino Acid Substitution; D001798:Blood Proteins / Q000737:chemistry / Q000172:deficiency / Q000235:genetics*; D030561:Databases, Nucleic Acid; D006801:Humans; D009154:Mutation; D017434:Protein Structure, Tertiary
D001798:Blood Proteins; C026080:plasma protein Z