A phenotypically neutral dimorphism of protein S: The substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene

Dahlbäck, 1991, Protein S and C4b-binding protein: components involved in the regulation of the protein C anticoagulant system, Thromb. Haemost., 66, 49, 10.1055/s-0038-1646373 Esmon, 1992, The protein C anticoagulant pathway, Arteriosclerosis and Thrombosis, 12, 135, 10.1161/01.ATV.12.2.135 Comp, 1984, Recurrent venous thromboembolism in patients with a partial deficiency of protein S, N. Engl. J. Med., 311, 1525, 10.1056/NEJM198412133112401 Comp, 1984, Familial protein S deficiency is associated with recurrent thrombosis, J. Clin. Invest., 74, 2082, 10.1172/JCI111632 Kamiya, 1986, Inherited deficiency of protein S in a Japanese family with recurrent venous thrombosis: a study of three generations, Blood, 67, 406, 10.1182/blood.V67.2.406.406 Comp, 1986, An abnormal plasma distribution of protein S occurs in functional protein S deficiency, Blood, 67, 504, 10.1182/blood.V67.2.504.504 Mannucci, 1989, Familial dysfunction of protein S, Thromb. Haemost., 62, 763, 10.1055/s-0038-1646898 Schmidel, 1990, Organization of the human protein S genes, Biochemistry, 29, 7845, 10.1021/bi00486a010 Ploos Van Amstel, 1989, Partial protein S gene deletion in a family with hereditary thrombophilia, Blood, 73, 479, 10.1182/blood.V73.2.479.479 Schmidel, 1991, A 5.3-kb deletion including exon XIII of the protein S α gene occurs in two protein S-deficient families, Blood, 77, 551, 10.1182/blood.V77.3.551.551 Bertina, 1990, Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460, Blood, 76, 538, 10.1182/blood.V76.3.538.538 Diepstraten, 1991, A CCA/CCG neutral dimorphism in the codon for Pro 626 of the human protein S gene PSα (PROS1), Nucl. Acid. Res., 19, 5091, 10.1093/nar/19.18.5091 Tanimoto, 1988, DNA analysis of seven patients with hemophilia B who have anti-factor IX antibodies: relationship to clinical manifestations and evidence that the abnormal gene was inherited, J. Lab. Clin. Med., 112, 307 Kobayashi, 1989, Functional activity of protein S determined with use of protein C activated by venom activator, Clin. Chem., 35, 1644, 10.1093/clinchem/35.8.1644 Dahlbäck, 1983, Purification of human vitamin K-dependent protein S and its limited proteolysis by thrombin, Biochem. J., 209, 837, 10.1042/bj2090837 Dahlback, 1990, Characterization of functionally important domains in human vitamin K-dependent protein S using monoclonal antibodies, J. Biol. Chem., 265, 8127, 10.1016/S0021-9258(19)39047-7 Hoskins, 1987, Cloning and characterization of human liver cDNA encoding a protein S precursor, 84, 349 Schwarz, 1989, Familial protein S deficiency with a variant protein S molecule in plasma and platelets, Blood, 74, 213, 10.1182/blood.V74.1.213.213 Yamamoto, 1991, Genotype establishments for protein C deficiency by use of a DNA polymorphism in the gene, Blood, 77, 2633, 10.1182/blood.V77.12.2633.2633 Stenflo, 1991, Structure-function relationships of epidermal growth factor modules in vitamin K-dependent clotting factors, Blood, 78, 1637, 10.1182/blood.V78.7.1637.1637 Nishimura, 1991, Characterization of Factor IX Fukuoka with substitution of Asn-92 by His in the second epidermal growth factor-like domain (Abstract 198), Thromb. Haemost., 65, 712 Watkins, 1988, The gene for protein S maps near the centromere of human chromosome 3, Blood, 71, 238, 10.1182/blood.V71.1.238.238 Sugiura, 1992, Three distinct candidate point mutations of the von Willebrand factor gene in four patients with type IIA von Willebrand disease, Thromb. Haemost., 67, 612, 10.1055/s-0038-1648510 Kwok, 1990, Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type I model studies, Nucl. Acid. Res., 18, 999, 10.1093/nar/18.4.999 Ogura, 1987, Biosynthesis and secretion of functional protein S by a human megakaryoblastic cell line (MEG-O1), Blood, 70, 301, 10.1182/blood.V70.1.301.301 Newman, 1988, Enzymatic amplification of platelet-specific messenger RNA using the polymerase chain reaction, J. Clin. Invest., 82, 739, 10.1172/JCI113656