title: Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.
abstract: We report a family with type I and type III protein S (PS) deficiency, which showed to be phenotypic variants of the same genetic disease. Direct sequencing analysis of the PROS1 gene was performed to establish the genotype. The ratio of protein C antigen and total PS antigen levels (protein C/S ratio) was used to classify subjects at risk of venous thromboembolism. All PS deficient subjects had increased protein C/S ratios as well as a novel PROS1 c.1113T-->GG frameshift mutation.
authors.forename: Min Ki
authors.initials: MK
authors.lastname: ten Kate
authors.forename: Rene
authors.initials: R
authors.lastname: Mulder
authors.forename: Mathieu
authors.initials: M
authors.lastname: Platteel
authors.forename: Jan-Leendert P
authors.initials: JL
authors.lastname: Brouwer
authors.forename: Gerrit
authors.initials: G
authors.lastname: van der Steege
authors.forename: Jan
authors.initials: J
authors.lastname: van der Meer
mesh_terms: D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017293:Protein S / Q000235:genetics*; D018455:Protein S Deficiency / Q000145:classification / Q000235:genetics*; D012016:Reference Values; D013923:Thromboembolism / Q000235:genetics
chemical_list: D017293:Protein S