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Volumn 32, Issue 6, 1999, Pages 739-745

The Lebanese mutation as an important cause of familial hypercholesterolemia in Brazil

Author keywords

Alu sequences; apoB 100 gene; Familial hypercholesterolemia; Haplotype analysis; LDL receptor gene; Lebanese mutation

Indexed keywords

DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 0033144184     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X1999000600009     Document Type: Article
Times cited : (19)

References (29)
  • 1
    • 0002230202 scopus 로고
    • Familial hypercholesterolaemia
    • Scriver CR, Beaudet AL, Sly WS & Valle D (Editors). McGraw-Hill, New York
    • Goldstein JL & Brown MS (1989). Familial hypercholesterolaemia. In: Scriver CR, Beaudet AL, Sly WS & Valle D (Editors), The Metabolic Basis of Inherited Disease. 6th edn. McGraw-Hill, New York, 1215-1250.
    • (1989) The Metabolic Basis of Inherited Disease. 6th Edn. , pp. 1215-1250
    • Goldstein, J.L.1    Brown, M.S.2
  • 2
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs HH, Brown MS & Goldstern JL (1992). Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Human Mutation, 1: 445-466.
    • (1992) Human Mutation , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstern, J.L.3
  • 3
    • 0025597137 scopus 로고
    • The LDL receptor locus in familial hypercholesterolaemia: Molecular analysis of a membrane protein
    • Hobbs HH, Russel DW, Brown MS & Goldstein JL (1990). The LDL receptor locus in familial hypercholesterolaemia: molecular analysis of a membrane protein. Annual Review of Genetics, 24: 133-170.
    • (1990) Annual Review of Genetics , vol.24 , pp. 133-170
    • Hobbs, H.H.1    Russel, D.W.2    Brown, M.S.3    Goldstein, J.L.4
  • 4
    • 0004287708 scopus 로고
    • Encyclopaedia Britannica, Chicago
    • Daune D (Editor) (1991). Britannica Book of the Year. Encyclopaedia Britannica, Chicago, 560-561.
    • (1991) Britannica Book of the Year , pp. 560-561
    • Daune, D.1
  • 5
    • 0026439760 scopus 로고
    • High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia
    • Figueiredo MS, Santos JE, Alberto FL & Zago MA (1992). High frequency of the Lebanese allele of the LDLr gene among Brazilian patients with familial hypercholesterolaemia. Journal of Medical Genetis, 29: 813-815.
    • (1992) Journal of Medical Genetis , vol.29 , pp. 813-815
    • Figueiredo, M.S.1    Santos, J.E.2    Alberto, F.L.3    Zago, M.A.4
  • 7
    • 0019949179 scopus 로고
    • Serum triacylglycerols determined colorimetrically with an enzyme that produces hydrogen peroxide
    • Fossati P & Principe L (1982). Serum triacylglycerols determined colorimetrically with an enzyme that produces hydrogen peroxide. Clinical Chemistry, 28: 2077-2080.
    • (1982) Clinical Chemistry , vol.28 , pp. 2077-2080
    • Fossati, P.1    Principe, L.2
  • 8
    • 0015348189 scopus 로고
    • Estimation of the concentration of low-density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge
    • Friedwald W, Levy R & Fredrickson D (1972). Estimation of the concentration of low-density lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clinical Chemistry, 18: 499-502.
    • (1972) Clinical Chemistry , vol.18 , pp. 499-502
    • Friedwald, W.1    Levy, R.2    Fredrickson, D.3
  • 10
    • 0026542331 scopus 로고
    • Haplotype analysis at the low-density lipoprotein receptor locus: Application to the study of familial hypercholesterolemia in Israel
    • Berkman N, Weir BS, Pressman-Schwartz S, Ayeleth R & Leitersdorf E (1992). Haplotype analysis at the low-density lipoprotein receptor locus: application to the study of familial hypercholesterolemia in Israel. Human Genetics, 88: 405-410.
    • (1992) Human Genetics , vol.88 , pp. 405-410
    • Berkman, N.1    Weir, B.S.2    Pressman-Schwartz, S.3    Ayeleth, R.4    Leitersdorf, E.5
  • 12
    • 0025745305 scopus 로고
    • Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with Mspl
    • Hansen PS, Rudiger N, Tybjaerg-Hansen A, Faegerman D & Gugersen N (1991). Detection of the apoB-3500 mutation (glutamine for arginine) by gene amplification and cleavage with Mspl. Journal of Lipid Research, 32: 1229-1233.
    • (1991) Journal of Lipid Research , vol.32 , pp. 1229-1233
    • Hansen, P.S.1    Rudiger, N.2    Tybjaerg-Hansen, A.3    Faegerman, D.4    Gugersen, N.5
  • 13
    • 0026779207 scopus 로고
    • Familial defective apolipoprotein B-100: A single mutation that causes hypercholesterolaemia and premature coronary artery disease
    • Tybjaerg-Hansen A & Humphries SE (1992). Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolaemia and premature coronary artery disease. Atherosclerosis, 96: 91-107.
    • (1992) Atherosclerosis , vol.96 , pp. 91-107
    • Tybjaerg-Hansen, A.1    Humphries, S.E.2
  • 14
    • 0026321598 scopus 로고
    • Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families
    • Schuster H, Rauh G, Gerl C, Keller C, Wolfram G & Zöllner N (1991). Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families. Journal of Medical Genetics, 28: 865-870.
    • (1991) Journal of Medical Genetics , vol.28 , pp. 865-870
    • Schuster, H.1    Rauh, G.2    Gerl, C.3    Keller, C.4    Wolfram, G.5    Zöllner, N.6
  • 15
    • 0025859081 scopus 로고
    • Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia
    • Rüdiger NS, Hansen PS, Jørgensen M, Faergeman O, Bolund L & Gregersen N (1991). Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia. European Journal of Biochemistry, 198: 107-111.
    • (1991) European Journal of Biochemistry , vol.198 , pp. 107-111
    • Rüdiger, N.S.1    Hansen, P.S.2    Jørgensen, M.3    Faergeman, O.4    Bolund, L.5    Gregersen, N.6
  • 16
    • 0027190863 scopus 로고
    • Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia
    • Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G & Thein SL (1993). Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry, 32: 4216-4224.
    • (1993) Biochemistry , vol.32 , pp. 4216-4224
    • Olds, R.J.1    Lane, D.A.2    Chowdhury, V.3    De Stefano, V.4    Leone, G.5    Thein, S.L.6
  • 17
    • 0028967353 scopus 로고
    • One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic-chi
    • Rüdiger NS, Gregersen N & Kielland-Brandt MC (1995). One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic-chi. Nucleic Acids Research, 23: 256-260.
    • (1995) Nucleic Acids Research , vol.23 , pp. 256-260
    • Rüdiger, N.S.1    Gregersen, N.2    Kielland-Brandt, M.C.3
  • 19
    • 0024456578 scopus 로고
    • Analysis of a recycling-impaired mutant of low density lipo-protein receptor in familial hypercholesterolemia
    • Miyake Y, Tajima S, Funahashi T & Yamamoto A (1989). Analysis of a recycling-impaired mutant of low density lipo-protein receptor in familial hypercholesterolemia. Journal of Biological Chemistry, 264: 16584-16590.
    • (1989) Journal of Biological Chemistry , vol.264 , pp. 16584-16590
    • Miyake, Y.1    Tajima, S.2    Funahashi, T.3    Yamamoto, A.4
  • 20
    • 0023262783 scopus 로고
    • Alu-alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia
    • Lehrman MA, Russel DW, Goldstein JL & Brown MS (1987). Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. Journal of Biological Chemistry, 262: 3354-3361.
    • (1987) Journal of Biological Chemistry , vol.262 , pp. 3354-3361
    • Lehrman, M.A.1    Russel, D.W.2    Goldstein, J.L.3    Brown, M.S.4
  • 22
    • 0026646515 scopus 로고
    • Linkage disequilibrium among RFLPs at the insulin-receptor locus despite intervening Alu repeat sequences
    • Elbein SC (1992). Linkage disequilibrium among RFLPs at the insulin-receptor locus despite intervening Alu repeat sequences. American Journal of Human Genetics, 51: 1103-1110.
    • (1992) American Journal of Human Genetics , vol.51 , pp. 1103-1110
    • Elbein, S.C.1
  • 24
    • 0026586412 scopus 로고
    • The lipoprotein lipase-encoding human gene: Sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence
    • Chuat JC, Raisonnier A, Etienne J & Galibert F (1992). The lipoprotein lipase-encoding human gene: sequence from intron-6 to intron-9 and presence in intron-7 of a 40-million-year-old Alu sequence. Gene, 110: 257-261.
    • (1992) Gene , vol.110 , pp. 257-261
    • Chuat, J.C.1    Raisonnier, A.2    Etienne, J.3    Galibert, F.4
  • 26
    • 0027401877 scopus 로고
    • Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome
    • Marcus S, Hellgren D, Lambert B, Fällström SP & Wahlström J (1993). Duplication in the hypoxanthine phosphoribosyl-transferase gene caused by Alu-Alu recombination in a patient with Lesch Nyhan syndrome. Human Genetics, 90: 477-482.
    • (1993) Human Genetics , vol.90 , pp. 477-482
    • Marcus, S.1    Hellgren, D.2    Lambert, B.3    Fällström, S.P.4    Wahlström, J.5
  • 29
    • 0026690433 scopus 로고
    • A rapid method for diagnosis of the Lebanese allele in the low-density lipoprotein receptor gene
    • Cavanaugh JA, Easteal S, Simons L & Serjeanson S (1992). A rapid method for diagnosis of the Lebanese allele in the low-density lipoprotein receptor gene. Human Heredity, 42: 189-192.
    • (1992) Human Heredity , vol.42 , pp. 189-192
    • Cavanaugh, J.A.1    Easteal, S.2    Simons, L.3    Serjeanson, S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.