메뉴 건너뛰기




Volumn 81, Issue 2, 1999, Pages 189-192

Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; PROTEIN S;

EID: 0033052054     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1614440     Document Type: Article
Times cited : (18)

References (39)
  • 1
    • 0026337077 scopus 로고
    • The coagulation cascade: Initiation, maintenance and regulation
    • Davie EW, Fujikawa K, Kisiel W. The coagulation cascade: Initiation, maintenance and regulation. Biochemistry, 1991; 30: 10363-70.
    • (1991) Biochemistry , vol.30 , pp. 10363-10370
    • Davie, E.W.1    Fujikawa, K.2    Kisiel, W.3
  • 3
    • 0023880718 scopus 로고
    • Prevalence of hereditary thrombophilia and identification of genetic risk factors
    • Bertina RM. Prevalence of hereditary thrombophilia and identification of genetic risk factors. Fibrinolysis 1988; 2 (suppl. 2): 7-13.
    • (1988) Fibrinolysis , vol.2 , Issue.SUPPL. 2 , pp. 7-13
    • Bertina, R.M.1
  • 4
    • 0002350130 scopus 로고
    • Familial venous thrombophilia
    • Bloom AL, Forbes CB, Thomas DP, Tuddenham EGD (eds.). Edinburgh, Churchill Livingstone
    • Allaart CF, Briët E. Familial venous thrombophilia. In: Haemostasis and Thrombosis. Bloom AL, Forbes CB, Thomas DP, Tuddenham EGD (eds.). Edinburgh, Churchill Livingstone, 1994, pp 1349-60.
    • (1994) Haemostasis and Thrombosis , pp. 1349-1360
    • Allaart, C.F.1    Briët, E.2
  • 8
    • 0025003450 scopus 로고
    • Intron-exon organization of the active human protein S gene PSα and its pseudogene PSβ: Duplication and silencing during primate evolution
    • Ploos van Amstel HK, Reitsma PH, van der Logt PE, Bertina RM. Intron-exon organization of the active human protein S gene PSα and its pseudogene PSβ: duplication and silencing during primate evolution. Biochemistry 1990; 29: 7853-61.
    • (1990) Biochemistry , vol.29 , pp. 7853-7861
    • Ploos Van Amstel, H.K.1    Reitsma, P.H.2    Van Der Logt, P.E.3    Bertina, R.M.4
  • 9
    • 0025182946 scopus 로고
    • Molecular analysis of the gene for vitamin K-dependent protein S and its pseudogene. Cloning and partial gene organization
    • Edenbrandt CM, Lundwall A, Wydro R, Stenflo J. Molecular analysis of the gene for vitamin K-dependent protein S and its pseudogene. Cloning and partial gene organization. Biochemistry 1990; 29: 7861-8.
    • (1990) Biochemistry , vol.29 , pp. 7861-7868
    • Edenbrandt, C.M.1    Lundwall, A.2    Wydro, R.3    Stenflo, J.4
  • 13
    • 0010662163 scopus 로고
    • Primary structure of bovine vitamin K-dependent protein S
    • Dahlbäck B, Lundwall A, Stenflo J. Primary structure of bovine vitamin K-dependent protein S. Proc Natl Acad Sci USA 1986; 83: 4199-203.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 4199-4203
    • Dahlbäck, B.1    Lundwall, A.2    Stenflo, J.3
  • 16
    • 0021741550 scopus 로고
    • Familial protein S deficiency is associated with recurrent thrombosis
    • Comp PC, Nixon RR, Cooper R, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis. J. Clin Invest 1984; 74: 2082-88.
    • (1984) J. Clin Invest , vol.74 , pp. 2082-2088
    • Comp, P.C.1    Nixon, R.R.2    Cooper, R.3    Esmon, C.T.4
  • 17
    • 0022636454 scopus 로고
    • An abnormal plasma distribution of protein S occurs in functional protein S deficiency
    • Comp PC, Doray D, Patton D, Esmon CT. An abnormal plasma distribution of protein S occurs in functional protein S deficiency. Blood 1988; 67: 504-8.
    • (1988) Blood , vol.67 , pp. 504-508
    • Comp, P.C.1    Doray, D.2    Patton, D.3    Esmon, C.T.4
  • 18
    • 0022624812 scopus 로고
    • Biosynthesis and secretion of factor VII, protein C, protein S and the protein C inhibitor from a human hepatoma cell line
    • Fair DS, Marlar RA. Biosynthesis and secretion of factor VII, protein C, protein S and the protein C inhibitor from a human hepatoma cell line. Blood 1986; 67: 64-70.
    • (1986) Blood , vol.67 , pp. 64-70
    • Fair, D.S.1    Marlar, R.A.2
  • 19
    • 0021863658 scopus 로고
    • Serial studies of protein C and its inhibitor in patients with disseminated intravascular coagulation
    • Marlar RA, Endres-Brooks J, Miller C. Serial studies of protein C and its inhibitor in patients with disseminated intravascular coagulation. Blood 1985; 66: 59-63.
    • (1985) Blood , vol.66 , pp. 59-63
    • Marlar, R.A.1    Endres-Brooks, J.2    Miller, C.3
  • 20
    • 84912821548 scopus 로고
    • The monoclonal antibody to human protein S that inhibits the binding of protein S to C4b-binding protein
    • Abstract No 875
    • Koike Y, Sumi Y, Wakabayashi K, Ichikawa Y. The monoclonal antibody to human protein S that inhibits the binding of protein S to C4b-binding protein. Thromb Haemost 1989; 62: Abstract No 875.
    • (1989) Thromb Haemost , pp. 62
    • Koike, Y.1    Sumi, Y.2    Wakabayashi, K.3    Ichikawa, Y.4
  • 21
    • 0022372670 scopus 로고
    • Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
    • Saiki RK, Schaaf S, Falvona F, Mullis KB, Horn GT, Ehrlich HA, Arnhiem N. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985; 23: 1350-4.
    • (1985) Science , vol.23 , pp. 1350-1354
    • Saiki, R.K.1    Schaaf, S.2    Falvona, F.3    Mullis, K.B.4    Horn, G.T.5    Ehrlich, H.A.6    Arnhiem, N.7
  • 22
    • 23444453692 scopus 로고
    • Three novel mutations in 5 unrelated subjects with hereditary protein S deficiency type I
    • Reitsma PH, Ploos van Amstel JK, Bertina RM. Three novel mutations in 5 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    Ploos Van Amstel, J.K.2    Bertina, R.M.3
  • 26
    • 0032520034 scopus 로고    scopus 로고
    • A novel mutation of Arg306 of factor V gene in Hong Kong Chinese
    • Chan WP, Lee CK, Kwong YL, Lam CK and Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 1998; 91: 1135-9.
    • (1998) Blood , vol.91 , pp. 1135-1139
    • Chan, W.P.1    Lee, C.K.2    Kwong, Y.L.3    Lam, C.K.4    Liang, R.5
  • 27
    • 0031218812 scopus 로고    scopus 로고
    • Rapid detection of the prothrombin 20210A variation by allele specific PCR
    • Bertina RM. Rapid detection of the prothrombin 20210A variation by allele specific PCR. Thromb Haemost 1997; 78: 1157-63.
    • (1997) Thromb Haemost , vol.78 , pp. 1157-1163
    • Bertina, R.M.1
  • 28
    • 0029080341 scopus 로고
    • Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis
    • Bertina RM, Reitsma PH, Rosendaal FR, Vandenbroucke JP. Resistance to activated protein C and factor V Leiden as risk factors for venous thrombosis. Thromb Haemost 1995; 74: 449-53.
    • (1995) Thromb Haemost , vol.74 , pp. 449-453
    • Bertina, R.M.1    Reitsma, P.H.2    Rosendaal, F.R.3    Vandenbroucke, J.P.4
  • 30
    • 0028810738 scopus 로고
    • World distribution of factor V Leiden
    • Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346: 1133-4.
    • (1995) Lancet , vol.346 , pp. 1133-1134
    • Rees, D.C.1    Cox, M.2    Clegg, J.B.3
  • 31
    • 0029816870 scopus 로고    scopus 로고
    • Two mutations in exon III of the protein S a 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. Two mutations in exon III of the protein S a gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA. Thromb Haemost 1996; 76: 143-50.
    • (1996) Thromb Haemost , vol.76 , pp. 143-150
    • Andersen, B.D.1    Lind, B.2    Philips, M.3    Hansen, A.B.4    Ingerslev, J.5    Thorsen, S.6
  • 32
    • 0025744705 scopus 로고
    • Mechanism of insertional mutagenesis in human genes causing genetic disease
    • Cooper DN and Krawczak M. Mechanism of insertional mutagenesis in human genes causing genetic disease. Hum Genet 1991; 87: 409-15.
    • (1991) Hum Genet , vol.87 , pp. 409-415
    • Cooper, D.N.1    Krawczak, M.2
  • 33
    • 0032567829 scopus 로고    scopus 로고
    • Letter to the editor: Long runs of adenines and human mutations
    • Raabe M. Letter to the editor: Long runs of adenines and human mutations. Amer J Med Genet 1998; 76: 101-2.
    • (1998) Amer J Med Genet , vol.76 , pp. 101-102
    • Raabe, M.1
  • 34
    • 0027499770 scopus 로고
    • Human gene mutations affecting RNA processing and translation
    • Cooper DN. Human gene mutations affecting RNA processing and translation. Ann Med 1993 ;25: 11-7.
    • (1993) Ann Med , vol.25 , pp. 11-17
    • Cooper, D.N.1
  • 35
    • 0027340359 scopus 로고
    • Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients
    • Nayler JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients. Hum Mol Genet 1993; 2: 11-17.
    • (1993) Hum Mol Genet , vol.2 , pp. 11-17
    • Nayler, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 36
    • 0029033740 scopus 로고
    • Protein C deficiency in a controlled series of unselected outpatients: An infrequent but clear risk factor for venous thrombosis. Leiden Thrombophilia Study (LETS)
    • Koster T, Rosendaal FR, Bril̂t E, van der Meer, Colly LP, Poort SR, Vandenbroucke JP. Protein C deficiency in a controlled series of unselected outpatients: An infrequent but clear risk factor for venous thrombosis. Leiden Thrombophilia Study (LETS). Blood 1995; 85: 2756-61.
    • (1995) Blood , vol.85 , pp. 2756-2761
    • Koster, T.1    Rosendaal, F.R.2    Bril̂t, E.3    Van Der Meer4    Colly, L.P.5    Poort, S.R.6    Vandenbroucke, J.P.7
  • 39
    • 0028175686 scopus 로고
    • Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene
    • Gomez E, Ledford MR, Pegelow CH, Reitsma PH, Bertina RM. Homozygous protein S deficiency due to a one base pair deletion that leads to a stop codon in exon III of the protein S gene. Thromb Haemost 1994; 71: 723-6.
    • (1994) Thromb Haemost , vol.71 , pp. 723-726
    • Gomez, E.1    Ledford, M.R.2    Pegelow, C.H.3    Reitsma, P.H.4    Bertina, R.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.