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Volumn 25, Issue 1, 2005, Pages 211-215

Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

Author keywords

Atherosclerosis; Cardiovascular disease; Epidemiology; Genetics; Hypercholesterolemia

Indexed keywords

CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 11144229240     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.0000149380.94984.f0     Document Type: Article
Times cited : (32)

References (13)
  • 1
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1:445-466.
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 2
    • 0032574920 scopus 로고    scopus 로고
    • Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease
    • Tybjærg-Hansen A, Steffensen R, Meinertz H, Schnohr P, Nordestgaard BG. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N Engl J Med. 1998;338:1577-1584.
    • (1998) N Engl J Med , vol.338 , pp. 1577-1584
    • Tybjærg-Hansen, A.1    Steffensen, R.2    Meinertz, H.3    Schnohr, P.4    Nordestgaard, B.G.5
  • 3
    • 0000600880 scopus 로고    scopus 로고
    • Familial hypercholesterolemia
    • Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B, eds. New York: McGraw-Hill
    • Goldstein JL, Hobbs HH, Brown MS. Familial Hypercholesterolemia. In: Scriver CR, Beaudet AL, Valle D, Sly WS, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Diseases. New York: McGraw-Hill; 2001.
    • (2001) The Metabolic and Molecular Bases of Inherited Diseases
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 4
    • 0029670804 scopus 로고    scopus 로고
    • The Trp(23)-Stop and Trp(66)-Gly mutations in the LDL receptor gene: Common causes of familial hypercholesterolemia in Denmark
    • Jensen HK, Jensen LG, Hansen PS, Færgeman O, Gregersen N. The Trp(23)-Stop and Trp(66)-Gly mutations in the LDL receptor gene: Common causes of familial hypercholesterolemia in Denmark. Atherosclerosis. 1996;120:57-65.
    • (1996) Atherosclerosis , vol.120 , pp. 57-65
    • Jensen, H.K.1    Jensen, L.G.2    Hansen, P.S.3    Færgeman, O.4    Gregersen, N.5
  • 6
    • 0032844431 scopus 로고    scopus 로고
    • Spectrum of LDL receptor gene mutations in Denmark: Implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia
    • Jensen HK, Jensen LG, Meinertz H, Hansen PS, Gregersen N, Færgeman O. Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. Atherosclerosis. 1999;146:337-344.
    • (1999) Atherosclerosis , vol.146 , pp. 337-344
    • Jensen, H.K.1    Jensen, L.G.2    Meinertz, H.3    Hansen, P.S.4    Gregersen, N.5    Færgeman, O.6
  • 9
    • 0034662322 scopus 로고    scopus 로고
    • Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: Prospective registry study
    • Neil HAW, Hammond T, Huxley R, Matthews DR, Humphries SE. Extent of underdiagnosis of familial hypercholesterolaemia in routine practice: prospective registry study. BMJ. 2000;321:148.
    • (2000) BMJ , vol.321 , pp. 148
    • Neil, H.A.W.1    Hammond, T.2    Huxley, R.3    Matthews, D.R.4    Humphries, S.E.5
  • 10
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge
    • Friedewald WT, Levy RI, Fredrickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem. 1972;18:499-502.
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 13
    • 1442357145 scopus 로고    scopus 로고
    • Factor V Leiden and the risk for venous thromboembolism in the adult Danish population
    • Juul K, Tybjærg-Hansen A, Schnohr P, Nordestgaard BG. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Int Med. 2004;140:330-337.
    • (2004) Ann Int Med , vol.140 , pp. 330-337
    • Juul, K.1    Tybjærg-Hansen, A.2    Schnohr, P.3    Nordestgaard, B.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.