Factor VIII gene and hemophilia A.
暂无分享,去创建一个
[1] S. Antonarakis,et al. Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man , 1988, Nature.
[2] G. Barbujani,et al. Hemophilia A: carrier detection and prenatal diagnosis by DNA analysis. , 1987, Blood.
[3] B. Levinson,et al. A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. , 1987, Nucleic acids research.
[4] C. Mazurier,et al. Evidence that NH2-terminal but not COOH-terminal moiety of plasma von Willebrand factor binds to factor VIII. , 1987, Thrombosis Research.
[5] J. Gitschier,et al. Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene , 1985, Nature.
[6] C. Kasper,et al. Response of patients with mild and moderate hemophilia A and von Willebrand's disease to treatment with desmopressin. , 1985, Annals of Internal Medicine.
[7] C. Fulcher,et al. Characterization of the human factor VIII procoagulant protein with a heterologous precipitating antibody. , 1982, Proceedings of the National Academy of Sciences of the United States of America.
[8] S. Rapaport,et al. The importance of activation of antihemophilic globulin and proaccelerin by traces of thrombin in the generation of intrinsic prothrombinase activity. , 1963, Blood.
[9] P. Lollar,et al. Stoichiometry of the porcine factor VIII-von Willebrand factor association. , 1987, The Journal of biological chemistry.
[10] R. Heilig,et al. Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. , 1985, The New England journal of medicine.
[11] A. Dorner,et al. Synthesis, processing, and secretion of recombinant human factor VIII expressed in mammalian cells. , 1988, The Journal of biological chemistry.
[12] J. Griffin,et al. Proteolytic inactivation of human factor VIII procoagulant protein by activated human protein C and its analogy with factor V. , 1984, Blood.
[13] W. Kane,et al. Cloning of a cDNA coding for human factor V, a blood coagulation factor homologous to factor VIII and ceruloplasmin. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[14] E. Chen,et al. Detection and sequence of mutations in the factor VIII gene of haemophiliacs , 1985, Nature.
[15] G. Vehar,et al. Proteolytic processing of human factor VIII. Correlation of specific cleavages by thrombin, factor Xa, and activated protein C with activation and inactivation of factor VIII coagulant activity. , 1986, Biochemistry.
[16] J. Gitschier,et al. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. , 1987, The New England journal of medicine.
[17] R. Kaufman,et al. A large region (approximately equal to 95 kDa) of human factor VIII is dispensable for in vitro procoagulant activity. , 1986, Proceedings of the National Academy of Sciences of the United States of America.
[18] C. Wolfrom,et al. Factor VIII Procoagulant Antigen in Human Tissues , 1988, Thrombosis and Haemostasis.
[19] P. Mannucci,et al. Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype. , 1986, Blood.
[20] H. Reisner,et al. Factor VIII coagulant antigen in hemophilic plasma: a comparison of five alloantibodies. , 1980, Blood.
[21] P. Mannucci,et al. 1-DEAMINO-8-D-ARGININE VASOPRESSIN: A NEW PHARMACOLOGICAL APPROACH TO THE MANAGEMENT OF HAEMOPHILIA AND VON WILLEBRAND'S DISEASE , 1977, The Lancet.
[22] L. Rydén,et al. Reinvestigation of some physicochemical and chemical properties of human ceruloplasmin (ferroxidase). , 1976, Biochemistry.
[23] S. Antonarakis. Hemophilia A persistence and gene mutational vulnerability. , 1987, Hospital practice.
[24] M. Griffith,et al. Measurement of human factor IXa activity in an isolated factor X activation system. , 1982, Thrombosis research.
[25] L. Hoyer,et al. The effect of thrombin on human factor VIII. Cleavage of the factor VIII procoagulant protein during activation. , 1981, The Journal of laboratory and clinical medicine.
[26] S. Antonarakis,et al. Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. , 1985, The New England journal of medicine.
[27] K. Mann,et al. Internal duplication and sequence homology in factors V and VIII. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[28] W. Wood,et al. Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. , 1986, Science.
[29] R. Kaufman,et al. Proteolytic requirements for thrombin activation of anti-hemophilic factor (factor VIII). , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[30] K. Titani,et al. A major factor VIII binding domain resides within the amino-terminal 272 amino acid residues of von Willebrand factor. , 1987, The Journal of biological chemistry.
[31] T. H. van der Kwast,et al. Localization of factor VIII-procoagulant antigen: an immunohistological survey of the human body using monoclonal antibodies. , 1986, Blood.
[32] R. Schooley,et al. Cure of hemophilia A by orthotopic liver transplantation. , 1988, Gastroenterology.
[33] R. McGraw,et al. Application of molecular genetics to prenatal diagnosis and carrier detection in the hemophilias: some limitations. , 1985, Blood.
[34] Eric H. Davidson,et al. Gene activity in early development , 1968 .
[35] R. Lawn,et al. Detection of hemophilia A carriers using intragenic factor VIII:C DNA polymorphisms. , 1987 .
[36] W. Kane,et al. Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders. , 1988, Blood.
[37] S. Antonarakis,et al. Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. , 1988, American journal of human genetics.
[38] B. Keyt,et al. Expression of active human factor VIII from recombinant DNA clones , 1984, Nature.
[39] T. Griggs,et al. Purified human factor VIII procoagulant protein: comparative hemostatic response after infusions into hemophilic and von Willebrand disease dogs. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[40] D. Fass,et al. Porcine factor VIII:C prepared by affinity interaction with von Willebrand factor and heterologous antibodies: sodium dodecyl sulfate polyacrylamide gel analysis. , 1982, Blood.
[41] J. Katzmann,et al. Monoclonal antibodies to porcine factor VIII coagulant and their use in the isolation of active coagulant protein. , 1982, Blood.
[42] J. Roberts,et al. Localization of human factor FVIII inhibitor epitopes to two polypeptide fragments. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[43] L. Aledort,et al. RECOMBINATION BETWEEN FACTOR VIII:C GENE AND St14 LOCUS , 1986, The Lancet.
[44] D. Barker,et al. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA , 1984, Cell.
[45] S. Antonarakis,et al. Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots , 1986, Nature.
[46] K. Mullis,et al. Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. , 1985, Science.
[47] M. Hultin. Modulation of thrombin-mediated activation of factor VIII:C by calcium ions, phospholipid, and platelets. , 1985 .