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Journal Abstract Search

136 related items for PubMed ID: 1511989

  • 1. Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis.
    Grundy CB, Schulman S, Tengborn L, Kakkar VV, Cooper DN.
    Hum Genet; 1992 Aug; 89(6):685-6. PubMed ID: 1511989
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  • 2. A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis.
    Grundy CB, Chisholm M, Kakkar VV, Cooper DN.
    Hum Genet; 1992 Aug; 89(6):683-4. PubMed ID: 1511988
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  • 3. A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis.
    Millar DS, Grundy CB, Bignell P, Moffat EH, Martin R, Kakkar VV, Cooper DN.
    Blood Coagul Fibrinolysis; 1993 Apr; 4(2):345-7. PubMed ID: 8499568
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  • 4. A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.
    Millar DS, Grundy CB, Bignell P, Mitchell DC, Corden D, Woods P, Kakkar VV, Cooper DN.
    Hum Genet; 1993 Mar; 91(2):196. PubMed ID: 8462980
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  • 5. Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds.
    Ireland HA, Boisclair MD, Taylor J, Thompson E, Thein SL, Girolami A, De Caterina M, Scopacasa F, De Stefano V, Leone G, Finazzi G, Cohen H, Lane DA.
    Hum Mutat; 1996 Mar; 7(2):176-9. PubMed ID: 8829639
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  • 11. Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis.
    Yang LH, Wang MS, Zheng FX, Li J, Chen Y, Jin YH, Xie HX, Yang XL, Chen BC.
    Genet Mol Res; 2014 Apr 16; 13(2):2969-77. PubMed ID: 24782131
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  • 15. Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations.
    Liu H, Wang HF, Tang L, Yang Y, Wang QY, Zeng W, Wu YY, Cheng ZP, Hu B, Guo T, Hu Y.
    Gene; 2015 May 25; 563(1):35-40. PubMed ID: 25748729
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  • 18. Acceptor splice site mutation in the invariant AG of intron 5 of the protein C gene, causing type I protein C deficiency.
    Soria JM, Fontcuberta J, Chillón M, Borrell M, Estivill X, Sala N.
    Hum Genet; 1993 Nov 25; 92(5):506-8. PubMed ID: 8244342
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  • 20. Hereditary protein C deficiency associated with mutations in exon IX of the protein C gene.
    Doig RG, Begley CG, McGrath KM.
    Thromb Haemost; 1994 Aug 25; 72(2):203-8. PubMed ID: 7831652
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