메뉴 건너뛰기




Volumn 18, Issue 2, 1998, Pages 309-315

Phenotypic variation in heterozygous familial hypercholesterolemia: A comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

Author keywords

Chinese; Dietary fats; Environment; Familial hypercholesterolemia; LDL receptor

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 0031838215     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.18.2.309     Document Type: Article
Times cited : (132)

References (20)
  • 1
    • 0000710395 scopus 로고
    • Familial hypercholesterolemia
    • Scriver CR, Beaudet AC, Sly WS, Valle D, eds. New York, NY: McGraw Hill Book Co
    • Goldstein JL, Brown MS. Familial hypercholesterolemia. In: Scriver CR, Beaudet AC, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease. 7th ed.. New York, NY: McGraw Hill Book Co; 1995:1981-2030.
    • (1995) The Metabolic Basis of Inherited Disease. 7th Ed. , pp. 1981-2030
    • Goldstein, J.L.1    Brown, M.S.2
  • 2
    • 0024348038 scopus 로고
    • Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
    • Hobbs HH, Leitersdorf E, Leffert CC, Cryer D, Brown MS, Goldstein JL. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. J Clin Invest. 1989;84:656-664.
    • (1989) J Clin Invest , vol.84 , pp. 656-664
    • Hobbs, H.H.1    Leitersdorf, E.2    Leffert, C.C.3    Cryer, D.4    Brown, M.S.5    Goldstein, J.L.6
  • 3
    • 0027484481 scopus 로고
    • Importance of diet in the treatment of familial hypercholesterolemia
    • Connor WE, Conner SL. Importance of diet in the treatment of familial hypercholesterolemia. Am J Cardiol. 1993;72:42D-53D.
    • (1993) Am J Cardiol , vol.72
    • Connor, W.E.1    Conner, S.L.2
  • 4
    • 0026031715 scopus 로고
    • Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia
    • Hill JS, Hayden MR, Frohlich J, Pritchard PH. Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb. 1990; 11:290-297.
    • (1990) Arterioscler Thromb , vol.11 , pp. 290-297
    • Hill, J.S.1    Hayden, M.R.2    Frohlich, J.3    Pritchard, P.H.4
  • 5
    • 0028177458 scopus 로고
    • Familial hypercholesterolemia in China: Identification of mutations in the LDL receptor gene that result in a receptor-negative phenotype
    • Sun X-M, Patel DD, Webb JC, Knight BL, Fan L-M, Cai HJ, Soutar AK. Familial hypercholesterolemia in China: identification of mutations in the LDL receptor gene that result in a receptor-negative phenotype. Arterioscler Thromb. 1994;14:85-94.
    • (1994) Arterioscler Thromb , vol.14 , pp. 85-94
    • Sun, X.-M.1    Patel, D.D.2    Webb, J.C.3    Knight, B.L.4    Fan, L.-M.5    Cai, H.J.6    Soutar, A.K.7
  • 7
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the use of preparative ultracentrifugation
    • Friedewald WT, Levy RJ, Frederickson DS. Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without the use of preparative ultracentrifugation. Clin Chem. 1972;18:499-502.
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.J.2    Frederickson, D.S.3
  • 8
    • 0024791277 scopus 로고
    • Technical tips: An efficient salt-chloroform extraction of DNA from blood and tissue
    • Technical tips: an efficient salt-chloroform extraction of DNA from blood and tissue. Trends Genet. 1989;5:391.
    • (1989) Trends Genet , vol.5 , pp. 391
  • 9
    • 0029874084 scopus 로고    scopus 로고
    • Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia and frequency of these mutations in FH patients in the United Kingdom
    • Webb JC, Sun X-M, McCarthy S, Neuwirth C, Thompson GR, Knight BL, Soutar AK. Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia and frequency of these mutations in FH patients in the United Kingdom. J Lipid Res. 1996;37:368-381.
    • (1996) J Lipid Res , vol.37 , pp. 368-381
    • Webb, J.C.1    Sun, X.-M.2    McCarthy, S.3    Neuwirth, C.4    Thompson, G.R.5    Knight, B.L.6    Soutar, A.K.7
  • 10
    • 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
  • 11
    • 0029788884 scopus 로고    scopus 로고
    • Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: A rare mutation that disrupts splicing and a common polymorphism
    • Webb JC, Patel DD, Shoulders CC, Knight BL, Soutar AK. Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts splicing and a common polymorphism. Hum Mol Genet. 1996;5:1325-1331.
    • (1996) Hum Mol Genet , vol.5 , pp. 1325-1331
    • Webb, J.C.1    Patel, D.D.2    Shoulders, C.C.3    Knight, B.L.4    Soutar, A.K.5
  • 12
    • 0026664117 scopus 로고
    • Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene
    • Warnich L, Kotze MJ, Langenhoven E, Retief AE. Detection of a frequent polymorphism in exon 10 of the low-density lipoprotein receptor gene. Hum Genet. 1992;89:362.
    • (1992) Hum Genet , vol.89 , pp. 362
    • Warnich, L.1    Kotze, M.J.2    Langenhoven, E.3    Retief, A.E.4
  • 14
    • 0023088645 scopus 로고
    • Avall polymorphism in the human LDL receptor gene
    • Hobbs HH, Esser V, Russell DW. Avall polymorphism in the human LDL receptor gene. Nucleic Adds Res. 1987;15:379.
    • (1987) Nucleic Adds Res , vol.15 , pp. 379
    • Hobbs, H.H.1    Esser, V.2    Russell, D.W.3
  • 15
    • 0026518938 scopus 로고
    • Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians
    • Betard C, Kessling AM, Roy M, Chamberland A, Lussier CS, J. Davignon J. Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum Genet. 1992;88:529-536.
    • (1992) Hum Genet , vol.88 , pp. 529-536
    • Betard, C.1    Kessling, A.M.2    Roy, M.3    Chamberland, A.4    Lussier, C.S.5    Davignon, J.6
  • 17
    • 17344367382 scopus 로고
    • Ministry of Health, Province of British Columbia and Health and Welfare Canada, Victoria
    • Heart Health: A Report of the British Columbia Heart Health Survey. Ministry of Health, Province of British Columbia and Health and Welfare Canada, Victoria. 1990.
    • (1990) Heart Health: A Report of the British Columbia Heart Health Survey
  • 19
    • 0025266556 scopus 로고
    • Common low-density lipoprotein receptor mutations in the French Canadian population
    • Leitersdorf E, Tobin EJ, Davignon J, Hobbs HH. Common low-density lipoprotein receptor mutations in the French Canadian population. J Clin Invest. 1990;85:1014-1023.
    • (1990) J Clin Invest , vol.85 , pp. 1014-1023
    • Leitersdorf, E.1    Tobin, E.J.2    Davignon, J.3    Hobbs, H.H.4
  • 20
    • 0027459226 scopus 로고
    • Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom
    • Gudnason V. King UL, Seed M, Sun X-M, Soutar AK, Humphries SE. Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler Thromb. 1993;13:56-63.
    • (1993) Arterioscler Thromb , vol.13 , pp. 56-63
    • Gudnason, V.1    King, U.L.2    Seed, M.3    Sun, X.-M.4    Soutar, A.K.5    Humphries, S.E.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.