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Volumn 91, Issue 8, 2006, Pages 1151-1152

Identification of a novel PROS1 c.1113T→GG frameshift mutation in a family with mixed type I/type III protein S deficiency

Author keywords

Hereditary thrombophilia; Mutation; PROS1; Protein S deficiency; Thrombosis

Indexed keywords

PROTEIN S;

EID: 33747003745     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (9)
  • 2
    • 1842287995 scopus 로고    scopus 로고
    • Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes
    • Simmonds RE, Zoller B, Ireland H, Thompson E, de Frutos PG, Dahlback B, et al. Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes. Blood 1997; 89:4364-70.
    • (1997) Blood , vol.89 , pp. 4364-4370
    • Simmonds, R.E.1    Zoller, B.2    Ireland, H.3    Thompson, E.4    De Frutos, P.G.5    Dahlback, B.6
  • 4
    • 0027481733 scopus 로고
    • Protein S deficiency in men with long-term human immunodeficiency virus infection
    • Stahl C, Wideman C, Spira T, Haff E, Hixon G, Evatt B. Protein S deficiency in men with long-term human immunodeficiency virus infection. Blood 1993; 81:1801-7.
    • (1993) Blood , vol.81 , pp. 1801-1807
    • Stahl, C.1    Wideman, C.2    Spira, T.3    Haff, E.4    Hixon, G.5    Evatt, B.6
  • 5
    • 0036881564 scopus 로고    scopus 로고
    • A review of the technical, diagnostic, and epidemiologic considerations for protein S assays
    • Goodwin AJ, Rosendaal FR, Kottke-Marchant K, Bovill EG. A review of the technical, diagnostic, and epidemiologic considerations for protein S assays. Arch Pathol Lab Med. 2002; 126:1349-66.
    • (2002) Arch Pathol Lab Med , vol.126 , pp. 1349-1366
    • Goodwin, A.J.1    Rosendaal, F.R.2    Kottke-Marchant, K.3    Bovill, E.G.4
  • 6
    • 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
    • Zoller B, Garcia de Frutos P, Dahlback 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
    • Zoller, B.1    Garcia De Frutos, P.2    Dahlback, B.3
  • 8
    • 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
  • 9
    • 14844305690 scopus 로고    scopus 로고
    • Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification
    • Brouwer JL, Veeger NJ, van der Schaaf W, Kluin-Nelemans HC, van der Meer J. Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test-based classification. Br J Haematol 2005; 128:703-10
    • (2005) Br J Haematol , vol.128 , pp. 703-710
    • Brouwer, J.L.1    Veeger, N.J.2    Van Der Schaaf, W.3    Kluin-Nelemans, H.C.4    Van Der Meer, J.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.