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Volumn 8, Issue 1, 1996, Pages 71-73

Recurrence of the PROC gene mutation R178Q: Independent origins in Spanish protein C deficiency patients

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN C;

EID: 0029997071     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)8:1<71::AID-HUMU10>3.0.CO;2-O     Document Type: Article
Times cited : (5)

References (18)
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  • 3
    • 0027161205 scopus 로고
    • Molecular events that control the PC antico-agulant pathway
    • Esmon CT (1993) Molecular events that control the PC antico-agulant pathway. Thromb Haemost 70:29-35.
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    • Esmon, C.T.1
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    • Gandrille, S.1    Aiach, M.2
  • 6
    • 0026548893 scopus 로고
    • Protein C deficiency and thromboembolism: Recurrent mutation at Arg 306 in the protein C gene
    • Grundy CB, Schulman S, Krawczak M, Koboscko J, Kakkar VV, Cooper DN (1992) Protein C deficiency and thromboembolism: Recurrent mutation at Arg 306 in the protein C gene. Hum Gent 88:586-588.
    • (1992) Hum Gent , vol.88 , pp. 586-588
    • Grundy, C.B.1    Schulman, S.2    Krawczak, M.3    Koboscko, J.4    Kakkar, V.V.5    Cooper, D.N.6
  • 8
    • 0026072398 scopus 로고
    • The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: Heterogeneity and founder effects
    • Reitsma PH, Poort SR, Allaart CF, Briët E, Bertina R (1991) The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: Heterogeneity and founder effects. Blood 78:890-894.
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    • Reitsma, P.H.1    Poort, S.R.2    Allaart, C.F.3    Briët, E.4    Bertina, R.5
  • 10
    • 9044233525 scopus 로고
    • Identification of two deletions and four point mu-tations in the protein C gene of 6 unrelated Spanish patients with hereditary protein C deficiency
    • Abstract
    • Sala N, Poort SR, Bertina RM, Soria JM, Fontcuberta J, Reitsma PH (1991) Identification of two deletions and four point mu-tations in the protein C gene of 6 unrelated Spanish patients with hereditary protein C deficiency. Thromb Haemost 65:1197 (Abstract).
    • (1991) Thromb Haemost , vol.65 , pp. 1197
    • Sala, N.1    Poort, S.R.2    Bertina, R.M.3    Soria, J.M.4    Fontcuberta, J.5    Reitsma, P.H.6
  • 11
    • 0027027366 scopus 로고
    • 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 (1992) 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. Hum Mutat 1:428-431.
    • (1992) Hum Mutat , vol.1 , pp. 428-431
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    • A novel intronic sequence polymorphism in the human protein C gene
    • Soria JM, Morell M, Estivill X, Sala N (1995) A novel intronic sequence polymorphism in the human protein C gene. Hum Genet 96:243-244.
    • (1995) Hum Genet , vol.96 , pp. 243-244
    • Soria, J.M.1    Morell, M.2    Estivill, X.3    Sala, N.4
  • 14
    • 0028270190 scopus 로고
    • Determination of the allelic and haplotype frequencies of three poly-morphisms in the promoter region of the human protein C gene
    • Spek CA, Poort SR, Bertina RM, Reitsma PH (1994) Determination of the allelic and haplotype frequencies of three poly-morphisms in the promoter region of the human protein C gene. Blood Coagulation and Fibrinolysis 5:309-311.
    • (1994) Blood Coagulation and Fibrinolysis , vol.5 , pp. 309-311
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    • Sugahara Y, Miura O, Hirosawa S, Aoki H (1994) Compound heterozygous protein C deficiency caused by two mutations, Arg-178 to Gin and Cys-331 to Arg, leading to impaired secretion of mutant protein C. Thromb Haemost 72:814-818.
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    • Tsay, W.1    Greengard, J.S.2    Griffin, J.H.3
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    • Two novel sequence polymorphisms of the human protein C gene
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.