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Journal Abstract Search

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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  • 3. A novel G-to-A mutation in the intron-N of the protein S gene leading to abnormal RNA splicing in a patient with protein S deficiency.
    D'Andrea G, Di Perna P, Brancaccio V, Faioni EM, Castaman G, Cibelli G, Di Minno G, Margaglione M, Protein S Italian Team.
    Haematologica; 2003 Apr; 88(4):459-64. PubMed ID: 12681974
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  • 8. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA.
    Andersen BD, Lind B, Philips M, Hansen AB, Ingerslev J, Thorsen S.
    Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520
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  • 16. Identification of eight point mutations in protein S deficiency type I--analysis of 15 pedigrees.
    Gómez E, Poort SR, Bertina RM, Reitsma PH.
    Thromb Haemost; 1995 May; 73(5):750-5. PubMed ID: 7482398
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  • 19. [A point mutation at Arg169 (CGG-->TGG) in hereditary protein C deficiency].
    Morishita E, Asakura H, Saito M, Yamazaki M, Ontachi Y, Mizutani T, Kato M, Nakao S.
    Rinsho Ketsueki; 2001 Feb; 42(2):104-9. PubMed ID: 11280915
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