Artigo Acesso aberto Revisado por pares

Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis

1993; Wiley; Volume: 2; Issue: 4 Linguagem: Inglês

10.1002/humu.1380020416

ISSN

1098-1004

Autores

D. S. Millar, Adrià López, Daniel J. White, George C. Abraham, Birgitte Schantz Laursen, Steven Holding, Joan Carles Reverter, J. Reynaud, U. Martinowitz, J. P. L. A. Hayes, V V Kakkar, D.N. Cooper,

Tópico(s)

Cancer-related gene regulation

Resumo

Human MutationVolume 2, Issue 4 p. 324-326 Mutation in Brief Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis D. S. Millar, D. S. Millar Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorA. Lopez, A. Lopez Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorD. White, D. White Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorG. Abraham, G. Abraham Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorB. Laursen, B. Laursen Aalborg Sygehus, Postboks 365, 9100 Aalborg, DenmarkSearch for more papers by this authorS. Holding, S. Holding Kingston General Hospital, Hull HU3 1UR, United KingdomSearch for more papers by this authorJ. C. Reverter, J. C. Reverter Hospital Clinic de Barcelona, Villarroel, 170-08036 Barcelona, SpainSearch for more papers by this authorJ. Reynaud, J. Reynaud CHRU Hopital Nord, 42277 St. Priest en Jarez, FranceSearch for more papers by this authorU. Martinowitz, U. Martinowitz National Hemophilia Center, Tel-Hashomer 52621, IsraelSearch for more papers by this authorJ. P. L. A. Hayes, J. P. L. A. Hayes All Saints Hospital, Chatham, Kent ME4 5NG, United Kingdom; Fax: 44-71-351-8324Search for more papers by this authorV. V. Kakkar, V. V. Kakkar Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorD. N. Cooper, Corresponding Author D. N. Cooper Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomCharter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this author D. S. Millar, D. S. Millar Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorA. Lopez, A. Lopez Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorD. White, D. White Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorG. Abraham, G. Abraham Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorB. Laursen, B. Laursen Aalborg Sygehus, Postboks 365, 9100 Aalborg, DenmarkSearch for more papers by this authorS. Holding, S. Holding Kingston General Hospital, Hull HU3 1UR, United KingdomSearch for more papers by this authorJ. C. Reverter, J. C. Reverter Hospital Clinic de Barcelona, Villarroel, 170-08036 Barcelona, SpainSearch for more papers by this authorJ. Reynaud, J. Reynaud CHRU Hopital Nord, 42277 St. Priest en Jarez, FranceSearch for more papers by this authorU. Martinowitz, U. Martinowitz National Hemophilia Center, Tel-Hashomer 52621, IsraelSearch for more papers by this authorJ. P. L. A. Hayes, J. P. L. A. Hayes All Saints Hospital, Chatham, Kent ME4 5NG, United Kingdom; Fax: 44-71-351-8324Search for more papers by this authorV. V. Kakkar, V. V. Kakkar Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this authorD. N. Cooper, Corresponding Author D. N. Cooper Charter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomCharter Molecular Genetics Laboratory, Thrombosis Research Institute, Chelsea, London SW3 6LR, United KingdomSearch for more papers by this author First published: 1993 https://doi.org/10.1002/humu.1380020416Citations: 11AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Beresford CH (1988) Antithrombin III deficiency. Blood Rev 2: 239– 250. Bock SC, Marrinan JA, Radziejewska E (1988) Antithrombin III Utah: Proline-407 to leucine mutation in a highly conserved region near the inhibitor reactive site, Biochemistry 27: 6171– 6178. Bock SC, Silberman JA, Wikoff v, Abildgaard U, Hultin MB (1989) Identification of a threonine for alanine substitution at residue 404 of antithrombin III Oslo suggests integrity of the 404-407 region is important for maintaining normal inhibitor levels. Thromb Haemost 62: 494. Cooper DN, Krawczak M (1993) Human Gene Mutation. Bios Scientific Publishers, Oxford. Daly M, Bruce D, Perry DJ, Price J, Harper PL, O'Meara A, Carrell RW (1990) Antithrombin Dublin (−3 Val→Glu): An N-terminal variant which has an aberrant signal peptidase cleavage site. FEBS Lett 273: 87– 90. Gandrille S, Vidaud D, Emmerich J, Clauser E, Sié P, Fiessinger JN, Alhenc-Gelas M, Priollet P, Aiach M (1991) Molecular basis for hereditary antithrombin III quantitative deficiencies: A stop codon in exon IIIa and a frameshift in exon VI. Br J Haematol 78: 414– 420. Gladson CL, Scharrer I, Hach V, Beck KH, Griffen JH (1988) The frequency of type I heterozygous protein S and protein C deficiency in 141 unrelated young patients and venous thrombosis. Thromb Haemost 59: 18– 22. Grundy CB, Thomas F, Millar DS, Krawczak M, Melissari E, Lindo V, Moffat E, Kakkar VV, Cooper DN (1991) Recurrent deletion in the human antithrombin III gene. Blood 78: 1027– 1032. Lane DA, Olds RR, Thein S-L (1992) Antithrombin and its deficiency states. Blood Coag Fibrinol 3: 315– 341. Lane DA, Olds RJ, Boisclair M, Chowdhury V, Thein SL, Cooper DN, Blajchman M, Perry D, Emmerich J, Aiach M (1993) Antithrombin III mutation database: First Update. Thromb Haemost (in press). Laurell C-B (1966) Quantitative estimation of proteins by electrophoresis in agarose gel containing antibodies. Anal Biochem 15: 45– 52. Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86: 2766– 2770. Scully MF (1983) The use of an automated analyzer in the evaluation of antithrombin III and heparin. Semin Thromb Haemost 9: 309– 313. Sun X-J, Chang J-Y (1989) Heparin binding domain of human antithrombin III inferred from the sequential reduction of its three disulfide linkages. J Biol Chem 264: 11288– 11293. Ye RD, Wun TC, Sadler JE (1987) cDNA cloning and expression in Escherichia coli of a plasminogen activator inhibitor from human placenta. J Biol Chem 262: 3718– 3725. Citing Literature Volume2, Issue41993Pages 324-326 ReferencesRelatedInformation

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