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Journal Abstract Search

86 related items for PubMed ID: 8701404

  • 1. Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families.
    Duchemin J, Borg JY, Borgel D, Vasse M, Lévèque H, Aiach M, Gandrille S.
    Thromb Haemost; 1996 Mar; 75(3):437-44. PubMed ID: 8701404
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  • 5. Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis.
    Gandrille S, Vidaud M, Aiach M, Alhenc-Gelas M, Fischer AM, Gouault-Heilman M, Toulon P, Fiessinger JN, Goossens M.
    Hum Mutat; 1992 Mar; 1(6):491-500. PubMed ID: 1301959
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  • 7. 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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  • 9. [Screening methods in genetic diagnosis of hereditary protein C deficiency].
    Dávid M, Losonczy H, Nagy A, Kutscher G, Meyer M.
    Orv Hetil; 1999 Jan 17; 140(3):125-32. PubMed ID: 9990817
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  • 10. Use of the denaturing gradient gel electrophoresis (DGGE) method for mutational screening of patients with familial hypercholesterolaemia (FH) and Familial defective apolipoprotein B100 (FDB).
    Azian M, Hapizah MN, Khalid BA, Khalid Y, Rosli A, Jamal R.
    Malays J Pathol; 2006 Jun 17; 28(1):7-15. PubMed ID: 17694954
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  • 11. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 17; 56(3):105-52. PubMed ID: 19728970
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  • 12. 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 17; 81(10):787-97. PubMed ID: 16868938
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  • 13. Six different point mutations in seven Danish families with symptomatic protein C deficiency.
    Lind B, Schwartz M, Thorsen S.
    Thromb Haemost; 1995 Feb 17; 73(2):186-93. PubMed ID: 7792728
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  • 14. 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 17; 126(2):219-25. PubMed ID: 15238143
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  • 15. Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
    Hirayama T, Yamaki E, Hata A, Tsuji M, Hashimoto K, Yamamoto M, Emi M.
    J Hum Genet; 1998 Jul 17; 43(4):250-4. PubMed ID: 9852677
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  • 17. Novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.
    Jap TS, Chiu CY, Won JG, Wu YC, Chen HS.
    Clin Endocrinol (Oxf); 2005 Mar 17; 62(3):336-42. PubMed ID: 15730416
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  • 18. Protein C and protein S assessment in hospital laboratories: which strategy and what role for DNA sequencing?
    Labrouche S, Reboul MP, Guérin V, Vergnes C, Freyburger G.
    Blood Coagul Fibrinolysis; 2003 Sep 17; 14(6):531-8. PubMed ID: 12960605
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  • 19. Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.
    Hermida J, Faioni EM, Mannucci PM.
    Thromb Haemost; 1999 Dec 17; 82(6):1634-8. PubMed ID: 10613647
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  • 20. Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency.
    Zöller B, Holm J, Svensson P, Dahlbäck B.
    Thromb Haemost; 1996 Feb 17; 75(2):270-4. PubMed ID: 8815575
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