메뉴 건너뛰기




Volumn 77, Issue 1, 1997, Pages 21-25

Identification of three novel mutations in hereditary protein S deficiency

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA;

EID: 0031059047     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0038-1655730     Document Type: Article
Times cited : (14)

References (21)
  • 1
    • 0003555650 scopus 로고
    • Protein S, C4b-binding protein, and protein Z
    • Motulsky AG, Bobrow M, Harper PS, Scriver C, eds. Oxford University Press, New York
    • Tuddenham EGD, Cooper DN. Protein S, C4b-binding protein, and protein Z. In: The Molecular Genetics of Haemostasis and its Inherited Disorders. Motulsky AG, Bobrow M, Harper PS, Scriver C, eds. Oxford University Press, New York 1994; pp 164-74.
    • (1994) The Molecular Genetics of Haemostasis and Its Inherited Disorders , pp. 164-174
    • Tuddenham, E.G.D.1    Cooper, D.N.2
  • 2
    • 0028103281 scopus 로고
    • Differential regulation of a and β chains of C4b-binding protein during acute-phase response resulting in stable plasma levels of free anticoagulant protein S
    • de Frutos PG, Alim RIM, Hardig Y, Zöller B, Dahlbäck B. Differential regulation of a and β chains of C4b-binding protein during acute-phase response resulting in stable plasma levels of free anticoagulant protein S. Blood 1994; 84: 815-22.
    • (1994) Blood , vol.84 , pp. 815-822
    • De Frutos, P.G.1    Alim, R.I.M.2    Hardig, Y.3    Zöller, B.4    Dahlbäck, B.5
  • 3
    • 0029017118 scopus 로고
    • Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease
    • Zöller B, de Frutos PG, Dahlbäck B. Evaluation of the relationship between protein S and C4b-binding protein isoforms in hereditary protein S deficiency demonstrating type I and type III deficiencies to be phenotypic variants of the same genetic disease. Blood 1995; 85: 3524-31.
    • (1995) Blood , vol.85 , pp. 3524-3531
    • Zöller, B.1    De Frutos, P.G.2    Dahlbäck, B.3
  • 4
    • 0029125979 scopus 로고
    • A review of mutations causing deficiencies of antithrombin, protein C and protein S
    • Aiach M, Gandrille S, Emmerich J. A review of mutations causing deficiencies of antithrombin, protein C and protein S. Thromb Haemost 1995; 74: 81-9.
    • (1995) Thromb Haemost , vol.74 , pp. 81-89
    • Aiach, M.1    Gandrille, S.2    Emmerich, J.3
  • 6
    • 0029060076 scopus 로고
    • Identification of eight point mutations in protein S deficiency type I-Analysis of 15 pedigrees
    • Gómez E, Poort, SR, Bertina RM, Reitsma PH. Identification of eight point mutations in protein S deficiency type I-Analysis of 15 pedigrees. Thromb Haemost 1995; 73: 750-5.
    • (1995) Thromb Haemost , vol.73 , pp. 750-755
    • Gómez, E.1    Poort, S.R.2    Bertina, R.M.3    Reitsma, P.H.4
  • 7
    • 0028818519 scopus 로고
    • Protein S deficiency type I: Identification of point mutations in 9 of 10 families
    • Mustafa S, Pabinger I, Mannhalter C. Protein S deficiency type I: identification of point mutations in 9 of 10 families. Blood 1995; 86: 3444-51.
    • (1995) Blood , vol.86 , pp. 3444-3451
    • Mustafa, S.1    Pabinger, I.2    Mannhalter, C.3
  • 8
    • 0029021380 scopus 로고
    • A quantitative protein S deficiency associated with a novel non-sense mutation and markedly reduced levels of mutated mRNA
    • Yamazaki T, Hamaguchi M, Katsumi A, Kagami K, Kojima T, Takamatsu J, Saito H. A quantitative protein S deficiency associated with a novel non-sense mutation and markedly reduced levels of mutated mRNA. Thromb Haemost 1995; 74: 590-5.
    • (1995) Thromb Haemost , vol.74 , pp. 590-595
    • Yamazaki, T.1    Hamaguchi, M.2    Katsumi, A.3    Kagami, K.4    Kojima, T.5    Takamatsu, J.6    Saito, H.7
  • 9
    • 0024284028 scopus 로고
    • A simple salting-out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting-out procedure for extracting DNA from human nucleated cells. Nucl Acid Res 1988; 26: 1215.
    • (1988) Nucl Acid Res , vol.26 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 23444453692 scopus 로고
    • Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I
    • Reitsma PH, Ploos van Amstel HK, Bertina RM. Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I. J Clin Invest 1994; 93: 486-92.
    • (1994) J Clin Invest , vol.93 , pp. 486-492
    • Reitsma, P.H.1    Van Ploos Amstel, H.K.2    Bertina, R.M.3
  • 12
    • 0028871033 scopus 로고
    • Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of protein S active gene
    • Gandrille S, Borgel D, Eschwege-Gufflet V, Aillaud MF, Dreyfus M, Matheron C, Gaussem P, Abgrall JF, Jude B, Sié P, Toulon P, Aiach M. Identification of 15 different candidate causal point mutations and three polymorphisms in 19 patients with protein S deficiency using a scanning method for the analysis of protein S active gene. Blood 1995; 85: 130-8.
    • (1995) Blood , vol.85 , pp. 130-138
    • Gandrille, S.1    Borgel, D.2    Eschwege-Gufflet, V.3    Aillaud, M.F.4    Dreyfus, M.5    Matheron, C.6    Gaussem, P.7    Abgrall, J.F.8    Jude, B.9    Sié, P.10    Toulon, P.11    Aiach, M.12
  • 13
    • 0027383826 scopus 로고
    • Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of haemophilia B
    • David D, Rosa HAV, Pemberton S, Diniz MJ, Campos M, Lavinha J. Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of haemophilia B. Hum Mut 1993; 2: 355-61.
    • (1993) Hum Mut , vol.2 , pp. 355-361
    • David, D.1    Rosa, H.A.V.2    Pemberton, S.3    Diniz, M.J.4    Campos, M.5    Lavinha, J.6
  • 15
    • 0002426120 scopus 로고
    • Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids
    • Adolph KW, ed. Academic Press
    • Bunge S, Fuchs S, Gal A. Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids. In: Methods in Molecular Genetics. Adolph KW, ed. Academic Press, 1995.
    • (1995) Methods in Molecular Genetics
    • Bunge, S.1    Fuchs, S.2    Gal, A.3
  • 16
    • 0026907536 scopus 로고
    • Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter Syndrome)
    • Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A. Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter Syndrome). Hum Mol Genet 1992; 1: 335-9.
    • (1992) Hum Mol Genet , vol.1 , pp. 335-339
    • Bunge, S.1    Steglich, C.2    Beck, M.3    Rosenkranz, W.4    Schwinger, E.5    Hopwood, J.J.6    Gal, A.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.