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502 related items for PubMed ID: 16868938

  • 1. 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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  • 2. A novel splice site mutation in intron C of PROS1 leads to markedly reduced mutant mRNA level, absence of thrombin-sensitive region, and impaired secretion and cofactor activity of mutant protein S.
    Okada H, Kunishima S, Hamaguchi M, Takagi A, Yamamoto K, Takamatsu J, Matsushita T, Saito H, Kojima T, Yamazaki T.
    Thromb Res; 2010 May; 125(5):e246-50. PubMed ID: 20022358
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  • 4. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.
    Ten Kate MK, Platteel M, Mulder R, Terpstra P, Nicolaes GA, Reitsma PH, van der Steege G, van der Meer J.
    Hum Mutat; 2008 Jul; 29(7):939-47. PubMed ID: 18435454
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  • 5. 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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  • 6. Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: identification of seven novel mutations and three novel, apparently neutral, variants.
    Espinosa-Parrilla Y, Morell M, Borrell M, Souto JC, Fontcuberta J, Estivill X, Sala N.
    Hum Mutat; 2000 Jul; 15(5):463-73. PubMed ID: 10790208
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  • 7. A novel nonsense mutation Tyr301* of PROS1 causing protein S deficiency.
    Jang MA, Kim SH, Kim DK, Kim HJ.
    Blood Coagul Fibrinolysis; 2015 Mar; 26(2):223-4. PubMed ID: 25255242
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  • 11. 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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  • 15. Compound heterozygous mutations identified in severe type I protein S deficiency impaired the secretion of protein S.
    Zhou J, Shen W, Gu Y, Li M, Shen W.
    J Clin Pathol; 2020 Jan; 73(1):7-13. PubMed ID: 31422373
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  • 20. [Recurrent deep vein thrombosis caused by heterozygous missense mutation of the protein S gene: genetic analysis of a case].
    Ye X, Liu XL, Feng Y, Zhou XH, Xing ZF.
    Nan Fang Yi Ke Da Xue Xue Bao; 2011 Jun; 31(7):1228-31. PubMed ID: 21764702
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