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Journal Abstract Search

112 related items for PubMed ID: 10942114

  • 1. Molecular genetic analysis of severe protein C deficiency.
    Millar DS, Johansen B, Berntorp E, Minford A, Bolton-Maggs P, Wensley R, Kakkar V, Schulman S, Torres A, Bosch N, Cooper DN.
    Hum Genet; 2000 Jun; 106(6):646-53. PubMed ID: 10942114
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  • 3. Molecular analysis of the genotype-phenotype relationship in factor X deficiency.
    Millar DS, Elliston L, Deex P, Krawczak M, Wacey AI, Reynaud J, Nieuwenhuis HK, Bolton-Maggs P, Mannucci PM, Reverter JC, Cachia P, Pasi KJ, Layton DM, Cooper DN.
    Hum Genet; 2000 Feb; 106(2):249-57. PubMed ID: 10746568
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  • 7. [Gene diagnosis of four patients with protein C deficiency].
    Gao B, Zhou RF, Ouyang J, Chen B, Xu Y, Li P.
    Zhonghua Xue Ye Xue Za Zhi; 2016 Nov 14; 37(11):966-970. PubMed ID: 27995882
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  • 11. Severe Protein C Deficiency due to Novel Biallelic Variants in PROC and Their Phenotype Correlation.
    Barg AA, Dardik R, Levin C, Koren A, Levy-Mendelovich S, Pode-Shakked B, Kenet G.
    Acta Haematol; 2021 Nov 14; 144(3):327-331. PubMed ID: 32980846
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  • 15. Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency.
    Cutler JA, Patel R, Rangarajan S, Tait RC, Mitchell MJ.
    Haemophilia; 2010 Nov 14; 16(6):937-42. PubMed ID: 20546033
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  • 16. Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels.
    Couture P, Demers C, Morissette J, Delage R, Jomphe M, Couture L, Simard J.
    Thromb Haemost; 1998 Oct 14; 80(4):551-6. PubMed ID: 9798967
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  • 17. Age-specific onset and distribution of the natural anticoagulant deficiency in pediatric thromboembolism.
    Ichiyama M, Ohga S, Ochiai M, Tanaka K, Matsunaga Y, Kusuda T, Inoue H, Ishimura M, Takimoto T, Koga Y, Hotta T, Kang D, Hara T.
    Pediatr Res; 2016 Jan 14; 79(1-1):81-6. PubMed ID: 26372516
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  • 19. Identification of mutations in 15 Hungarian families with hereditary protein C deficiency.
    Dávid M, Losonczy H, Sas G, Nagy A, Kutscher G, Meyer M.
    Br J Haematol; 2000 Oct 14; 111(1):129-35. PubMed ID: 11091192
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  • 20. Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease.
    Terp BN, Cooper DN, Christensen IT, Jørgensen FS, Bross P, Gregersen N, Krawczak M.
    Hum Mutat; 2002 Aug 14; 20(2):98-109. PubMed ID: 12124990
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