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PUBMED FOR HANDHELDS

Journal Abstract Search


396 related items for PubMed ID: 18322254

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  • 2. Characterization and structural impact of five novel PROS1 mutations in eleven protein S-deficient families.
    Andersen BD, Bisgaard ML, Lind B, Philips M, Villoutreix B, Thorsen S.
    Thromb Haemost; 2001 Dec; 86(6):1392-9. PubMed ID: 11776305
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  • 5. Ectopic transcript analysis indicates that allelic exclusion is an important cause of type I protein C deficiency in patients with nonsense and frameshift mutations in the PROC gene.
    Soria JM, Berg LP, Fontcuberta J, Kakkar VV, Estivill X, Cooper DN, Sala N.
    Thromb Haemost; 1996 Jun; 75(6):870-6. PubMed ID: 8822578
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  • 6. One novel and one recurrent mutation in the PROS1 gene cause type I protein S deficiency in patients with pulmonary embolism associated with deep vein thrombosis.
    Mizukami K, Nakabayashi T, Naitoh S, Takeda M, Tarumi T, Mizoguchi I, Ieko M, Koike T.
    Am J Hematol; 2006 Oct; 81(10):787-97. PubMed ID: 16868938
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  • 9. Identification of protein Salpha gene mutations including four novel mutations in eight unrelated patients with protein S deficiency.
    Okada H, Takagi A, Murate T, Adachi T, Yamamoto K, Matsushita T, Takamatsu J, Sugita K, Sugimoto M, Yoshioka A, Yamazaki T, Saito H, Kojima T.
    Br J Haematol; 2004 Jul; 126(2):219-25. PubMed ID: 15238143
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  • 12. Identification of a novel PROS1 c.1113T-->GG frameshift mutation in a family with mixed type I/type III protein S deficiency.
    ten Kate MK, Mulder R, Platteel M, Brouwer JL, van der Steege G, van der Meer J.
    Haematologica; 2006 Aug; 91(8):1151-2. PubMed ID: 16885060
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  • 13. Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency.
    Espinosa-Parrilla Y, Morell M, Souto JC, Tirado I, Fontcuberta J, Estivill X, Sala N.
    Hum Mutat; 1999 Aug; 14(1):30-9. PubMed ID: 10447256
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  • 14. Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.
    Dall'Osso C, Guella I, Duga S, Locatelli N, Paraboschi EM, Spreafico M, Afrasiabi A, Pechlaner C, Peyvandi F, Tenchini ML, Asselta R.
    Haematologica; 2008 Oct; 93(10):1505-13. PubMed ID: 18728029
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  • 15. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Blood Cells Mol Dis; 2006 Oct; 36(1):46-52. PubMed ID: 16326120
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  • 16. Identification of three novel mutations in hereditary protein S deficiency.
    Bustorff TC, Freire I, Gago T, Crespo F, David D.
    Thromb Haemost; 1997 Jan; 77(1):21-5. PubMed ID: 9031443
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  • 17. Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22.
    Pereira FJ, do Céu Silva M, Picanço I, Seixas MT, Ferrão A, Faustino P, Romão L.
    Br J Haematol; 2006 Apr; 133(1):98-102. PubMed ID: 16512835
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  • 18. A quantitative protein S deficiency associated with a novel nonsense mutation and markedly reduced levels of mutated mRNA.
    Yamazaki T, Hamaguchi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H.
    Thromb Haemost; 1995 Aug; 74(2):590-5. PubMed ID: 8584989
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  • 19. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.
    Chikh K, Rodriguez C, Vey S, Vanier MT, Millat G.
    Hum Mutat; 2005 Jul; 26(1):20-8. PubMed ID: 15937921
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  • 20. First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
    Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M.
    Blood Coagul Fibrinolysis; 1994 Aug; 5(4):593-600. PubMed ID: 7841316
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