title: An unreported mutation within protein Z gene is associated with very low protein levels in women with fetal loss.
abstract: 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.
authors.affiliation: Atherosclerosis and Thrombosis Unit, I.R.C.C.S. Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy. e.grandone@operapadrepio.it
authors.forename: Elvira
authors.initials: E
authors.lastname: Grandone
authors.forename: Donatella
authors.initials: D
authors.lastname: Colaizzo
authors.forename: Filomena
authors.initials: F
authors.lastname: Cappucci
authors.forename: Rosa Lucia
authors.initials: RL
authors.lastname: D'Ambrosio
authors.forename: Gennaro
authors.initials: G
authors.lastname: Vecchione
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
mesh_terms: 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
chemical_list: D001798:Blood Proteins; C026080:plasma protein Z