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Journal Abstract Search

181 related items for PubMed ID: 7878626

  • 21. A neonate with homozygous protein C deficiency with a homozygous Arg178Trp mutation.
    Ozlu F, Kyotani M, Taskin E, Ozcan K, Kojima T, Matsushita T, Yapicioğlu H, Takagi A, Saşmaz I, Satar M, Narli N.
    J Pediatr Hematol Oncol; 2008 Aug; 30(8):608-11. PubMed ID: 18799939
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  • 22. 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
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  • 24. Application of two neutral MspI DNA polymorphisms in the analysis of hereditary protein C deficiency.
    Reitsma PH, te Lintel Hekkert W, Koenhen E, van der Velden PA, Allaart CF, Deutz-Terlouw PP, Poort SR, Bertina RM.
    Thromb Haemost; 1990 Oct 22; 64(2):239-44. PubMed ID: 1702905
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  • 25. 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 22; 64(1):25-35. PubMed ID: 9682215
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  • 30. A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy.
    Millar DS, Allgrove J, Rodeck C, Kakkar VV, Cooper DN.
    Blood Coagul Fibrinolysis; 1994 Aug 22; 5(4):647-9. PubMed ID: 7841323
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  • 31. 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 22; 126(2):219-25. PubMed ID: 15238143
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  • 32. [Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].
    Zhou RF, Wang HL, Fu QH, Wang WB, Wu WM, Ding QL, Xie S, Hu YQ, Wang XF, Wang ZY.
    Zhonghua Yi Xue Za Zhi; 2003 Oct 10; 83(19):1694-7. PubMed ID: 14642106
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  • 34. 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 10; 74(2):590-5. PubMed ID: 8584989
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  • 35. "Pseudo homozygous" activated protein C resistance due to double heterozygous factor V defects (factor V Leiden mutation and type I quantitative factor V defect) associated with thrombosis: report of two cases belonging to two unrelated kindreds.
    Simioni P, Scudeller A, Radossi P, Gavasso S, Girolami B, Tormene D, Girolami A.
    Thromb Haemost; 1996 Mar 10; 75(3):422-6. PubMed ID: 8701401
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  • 37. Neonatal purpura fulminans due to homozygous protein C or protein S deficiencies.
    Marlar RA, Neumann A.
    Semin Thromb Hemost; 1990 Oct 10; 16(4):299-309. PubMed ID: 2149204
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  • 38. Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
    Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y.
    J Hum Genet; 1998 Oct 10; 43(2):91-100. PubMed ID: 9621512
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  • 39. Coumarin necrosis, neonatal purpura fulminans, and protein C deficiency.
    Gladson CL, Groncy P, Griffin JH.
    Arch Dermatol; 1987 Dec 10; 123(12):1701a-1706a. PubMed ID: 2961308
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