메뉴 건너뛰기




Volumn 120, Issue 1-2, 1996, Pages 57-65

The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: Common causes of familial hypercholesterolemia in Denmark

Author keywords

Familial hypercholesterolemia; Low density lipoprotein receptor; Mutations; Single strand conformation polymorphisms

Indexed keywords

CHOLESTEROL; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR; TRIACYLGLYCEROL;

EID: 0029670804     PISSN: 00219150     EISSN: None     Source Type: Journal    
DOI: 10.1016/0021-9150(95)05680-7     Document Type: Article
Times cited : (25)

References (29)
  • 2
    • 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.
    • (1992) Hum Mutat , vol.1 , pp. 445
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 4
    • 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.
    • (1990) J Clin Invest , vol.85 , pp. 1014
    • Leitersdorf, E.1    Tobin, E.J.2    Davignon, J.3    Hobbs, H.H.4
  • 7
    • 0026686162 scopus 로고
    • The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland
    • Koivisto UM, Turtola H, Aalto-Setälä K, Top B, Frants RR, Kovanen PT, Syvänen AC, Kontula K. The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland. J Clin Invest 1992;90:219.
    • (1992) J Clin Invest , vol.90 , pp. 219
    • Koivisto, U.M.1    Turtola, H.2    Aalto-Setälä, K.3    Top, B.4    Frants, R.R.5    Kovanen, P.T.6    Syvänen, A.C.7    Kontula, K.8
  • 8
    • 0025915296 scopus 로고
    • The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners
    • Kotze MJ, Langenhoven E, Warnich L, Du Plesis L, Retief AE. The molecular basis and diagnosis of familial hypercholesterolemia in South African Afrikaners. Ann Hum Genet 1991;55:115.
    • (1991) Ann Hum Genet , vol.55 , pp. 115
    • Kotze, M.J.1    Langenhoven, E.2    Warnich, L.3    Du Plesis, L.4    Retief, A.E.5
  • 10
    • 0025745305 scopus 로고
    • Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI
    • Hansen PS, Rüdiger N, Tybjærg-Hansen A, Færgeman O, Gregersen N. Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with MspI. J Lipid Res 1991;32:1229.
    • (1991) J Lipid Res , vol.32 , pp. 1229
    • Hansen, P.S.1    Rüdiger, N.2    Tybjærg-Hansen, A.3    Færgeman, O.4    Gregersen, N.5
  • 11
    • 0015348189 scopus 로고
    • Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use af the preparative ultracentrifuge
    • Friedewald WT, Levy FI, Fredrickson DS. Estimation of the concentration of the low density lipoprotein cholesterol in plasma without use af the preparative ultracentrifuge. Clin Chem 1972;18:499.
    • (1972) Clin Chem , vol.18 , pp. 499
    • Friedewald, W.T.1    Levy, F.I.2    Fredrickson, D.S.3
  • 13
    • 0025816582 scopus 로고
    • A polymorphism in exon 2 of the human LDL-receptor gene identified by gene amplification and oligo nucleotide hybridization or restriction enzyme digestion
    • Soutar AK. A polymorphism in exon 2 of the human LDL-receptor gene identified by gene amplification and oligo nucleotide hybridization or restriction enzyme digestion. Nucleic Acids Res 1991;19:4314.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4314
    • Soutar, A.K.1
  • 15
    • 0022543019 scopus 로고
    • A DNA polymorphism in the human low-density lipoprotein receptor gene
    • Kotze MJ, Retief AE, Brink PA, Welch HFH. A DNA polymorphism in the human low-density lipoprotein receptor gene. S Afr Med J 1986;70:77.
    • (1986) S Afr Med J , vol.70 , pp. 77
    • Kotze, M.J.1    Retief, A.E.2    Brink, P.A.3    Welch, H.F.H.4
  • 16
  • 17
    • 0027514263 scopus 로고
    • Six DNA polymorphisms in the low density lipoprotein receptor gene: Their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia
    • Humphries S, King-Underwood L, Gudnason V, Seed M, Delattre S, Clavey V, Fruchart JC. Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia. J Med Genet 1993;30:273.
    • (1993) J Med Genet , vol.30 , pp. 273
    • Humphries, S.1    King-Underwood, L.2    Gudnason, V.3    Seed, M.4    Delattre, S.5    Clavey, V.6    Fruchart, J.C.7
  • 18
    • 0039936781 scopus 로고
    • Dinucleotide repeat polymorphism at the 3' end of the ldl receptor gene
    • Zuliani G, Hobbs HH. Dinucleotide repeat polymorphism at the 3' end of the LDL receptor gene. Nucleic Acids Res 1987;15:3943.
    • (1987) Nucleic Acids Res , vol.15 , pp. 3943
    • Zuliani, G.1    Hobbs, H.H.2
  • 19
    • 0002168913 scopus 로고
    • The Copenhagen City heart study
    • Appleyard M. (ed). the Copenhagen City Heart Study. Scand J Soc Med 1989;(suppl.) 17.
    • (1989) Scand J Soc Med , Issue.SUPPL. , pp. 17
    • Appleyard, M.1
  • 20
    • 0024121631 scopus 로고
    • Nonsense mutations in the human β-globin gene affect mRNA metabolism
    • Baserga SJ, Benz Jr EJ. Nonsense mutations in the human β-globin gene affect mRNA metabolism. Proc Natl Acad Sci USA 1988;85:2056.
    • (1988) Proc Natl Acad Sci USA , vol.85 , pp. 2056
    • Baserga, S.J.1    Benz E.J., Jr.2
  • 21
    • 0026322140 scopus 로고
    • Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
    • Harmosh A, Trapnell BC, Zeitlin PL, Montrose-Rafizadeh, Rosenstein BJ, Crystal RG, Cutting GR. Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. J Clin Invest 1991;88:1800.
    • (1991) J Clin Invest , vol.88 , pp. 1800
    • Harmosh, A.1    Trapnell, B.C.2    Zeitlin, P.L.3    Montrose-Rafizadeh4    Rosenstein, B.J.5    Crystal, R.G.6    Cutting, G.R.7
  • 22
    • 0028030499 scopus 로고
    • Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians
    • Simard J, Moorjani S, Vohl MC, Couture P, Torres AL, Gagne C, Despres JP, Labrie F, Lupien PJ. Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mol Genet 1994;9:1689.
    • (1994) Hum Mol Genet , vol.9 , pp. 1689
    • Simard, J.1    Moorjani, S.2    Vohl, M.C.3    Couture, P.4    Torres, A.L.5    Gagne, C.6    Despres, J.P.7    Labrie, F.8    Lupien, P.J.9
  • 23
    • 0027323004 scopus 로고
    • Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia
    • Moorjani S, Roy M, Torres A, Bétard C, Gagné C, Lambert M, Brun D, Davignon J, Lupien P. Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. Lancet 1993;341:1303.
    • (1993) Lancet , vol.341 , pp. 1303
    • Moorjani, S.1    Roy, M.2    Torres, A.3    Bétard, C.4    Gagné, C.5    Lambert, M.6    Brun, D.7    Davignon, J.8    Lupien, P.9
  • 25
    • 0026652905 scopus 로고
    • Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels
    • Koivisto PV, Koivisto UM, Miettinen TA, Kontula K. Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels. Arterioscler Thromb 1992;12:584.
    • (1992) Arterioscler Thromb , vol.12 , pp. 584
    • Koivisto, P.V.1    Koivisto, U.M.2    Miettinen, T.A.3    Kontula, K.4
  • 28
    • 0028172756 scopus 로고
    • Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia
    • Gudnason V, Day INM, Humphries SE. Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia. Arterioscler Thromb 1994;14:1717.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1717
    • Gudnason, V.1    Day, I.N.M.2    Humphries, S.E.3
  • 29
    • 0039344590 scopus 로고
    • Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia?
    • Torres AL, Moorjani S, Vohl MC, Gagné C, Lamarche B, Brun D, Després JP, Lupien PJ. Do mutations in the LDL receptor gene explain variation in LDL-cholesterol concentrations in children with heterozygous familial hypercholesterolemia? (Abstract) Atherosclerosis 1994;109:203.
    • (1994) Atherosclerosis , vol.109 , pp. 203
    • Torres, A.L.1    Moorjani, S.2    Vohl, M.C.3    Gagné, C.4    Lamarche, B.5    Brun, D.6    Després, J.P.7    Lupien, P.J.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.