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Journal Abstract Search

189 related items for PubMed ID: 8607097

  • 1. Severe type I protein C deficiency in a compound heterozygote for Y124C and Q132X mutations in exon 6 of the PROC gene.
    Soria JM, Morell M, Jiménez-Astorga C, Estivill X, Sala N.
    Thromb Haemost; 1995 Nov; 74(5):1215-20. PubMed ID: 8607097
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  • 2. Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families.
    Soria JM, Fontcuberta J, Borrell M, Estivill X, Sala N.
    Hum Mutat; 1992 Nov; 1(5):428-31. PubMed ID: 1301954
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  • 3. A compound heterozygous protein C deficiency with a single nucleotide G deletion encoding Gly-381 and an amino acid substitution of Lys for Gla-26.
    Ido M, Ohiwa M, Hayashi T, Nishioka J, Hatada T, Watanabe Y, Wada H, Shirakawa S, Suzuki K.
    Thromb Haemost; 1993 Oct 18; 70(4):636-41. PubMed ID: 8115990
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  • 4. Severe homozygous protein C deficiency: identification of a splice site missense mutation (184, Q-->H) in exon 7 of the protein C gene.
    Soria JM, Brito D, Barceló J, Fontcuberta J, Botero L, Maldonado J, Estivill X, Sala N.
    Thromb Haemost; 1994 Jul 18; 72(1):65-9. PubMed ID: 7974377
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  • 7. A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.
    Witt I, Beck S, Seydewitz HH, Tasangil C, Schenck W.
    Blood Coagul Fibrinolysis; 1994 Aug 18; 5(4):651-3. PubMed ID: 7841324
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  • 8. Six different point mutations in seven Danish families with symptomatic protein C deficiency.
    Lind B, Schwartz M, Thorsen S.
    Thromb Haemost; 1995 Feb 18; 73(2):186-93. PubMed ID: 7792728
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  • 9. 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 18; 76(2):143-50. PubMed ID: 8865520
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  • 11. Genetic characterization of protein C deficiency in Japanese subjects using a rapid and nonradioactive method for single-stand conformational polymorphism analysis and a model building.
    Miyata T, Sakata T, Zheng YZ, Tsukamoto H, Umeyama H, Uchiyama S, Ikusaka M, Yoshioka A, Imanaka Y, Fujimura H, Kambayashi J, Kato H.
    Thromb Haemost; 1996 Sep 18; 76(3):302-11. PubMed ID: 8883262
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  • 14. Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gln and Cys-331 to Arg, leading to impaired secretion of mutant protein C.
    Sugahara Y, Miura O, Hirosawa S, Aoki N.
    Thromb Haemost; 1994 Dec 18; 72(6):814-8. PubMed ID: 7740447
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  • 15. Three missense mutations in the protein C heavy chain causing type I and type II protein C deficiency.
    Miyata T, Zheng YZ, Sakata T, Tsushima N, Kato H.
    Thromb Haemost; 1994 Jan 18; 71(1):32-7. PubMed ID: 8165644
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  • 17. An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.
    Lin Z, deMello DE, Wallot M, Floros J.
    Mol Genet Metab; 1998 May 18; 64(1):25-35. PubMed ID: 9682215
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  • 19. [Analysis of an hereditary protein C deficiency pedigree with compound heterozygous gene mutations].
    Yang LH, Zhu LQ, Yang XO, Wang MS, Li J, Chen BC, Jin YH, Zhang Z, Zheng FX.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Oct 18; 29(5):515-8. PubMed ID: 23042384
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