An unreported mutation within protein Z gene is associated with very low protein levels in women with fetal loss.
Gene variant intron C G-42A of protein Z is significantly associated with the occurrence of fetal loss. A previously unreported sporadic missense mutation within exon 8 is described in a patient with very low protein Z levels.
Grandone
Elvira
E
Atherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy. e.grandone@operapadrepio.it
Colaizzo
Donatella
D
Cappucci
Filomena
F
D'Ambrosio
Rosa Lucia
RL
Vecchione
Gennaro
G
Margaglione
Maurizio
M
D000022:Abortion, Spontaneous / Q000097:blood* / Q000235:genetics*; D000328:Adult; D001798:Blood Proteins / Q000032:analysis* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D009154:Mutation
D001798:Blood Proteins; C026080:plasma protein Z