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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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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 [Abstract] [Full Text] [Related]
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 [Abstract] [Full Text] [Related]
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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 [Abstract] [Full Text] [Related] Page: [Next] [New Search]