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Volumn 102, Issue 1, 1998, Pages 44-49

Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN B;

EID: 0031946734     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050651     Document Type: Article
Times cited : (12)

References (32)
  • 1
    • 0343438864 scopus 로고
    • An isoprecipitation reaction distinguishing human serum protein types
    • Allison AC, Blumberg BS (1961) An isoprecipitation reaction distinguishing human serum protein types. Lancet i:634-637
    • (1961) Lancet , vol.1 , pp. 634-637
    • Allison, A.C.1    Blumberg, B.S.2
  • 4
    • 0021255909 scopus 로고
    • Degradation of apolipoprotein B-100 of human plasma low density lipoproteins by tissue and plasma kallikreins
    • Cardin AD, Witt KR, Chao J, Margolius HS, Donaldson VH, Jackson RL (1984) Degradation of apolipoprotein B-100 of human plasma low density lipoproteins by tissue and plasma kallikreins. J Biol Chem 259:8522-8528
    • (1984) J Biol Chem , vol.259 , pp. 8522-8528
    • Cardin, A.D.1    Witt, K.R.2    Chao, J.3    Margolius, H.S.4    Donaldson, V.H.5    Jackson, R.L.6
  • 6
    • 0023054117 scopus 로고
    • The complete sequence and structural analysis of human apolipoprotein B-100: Relationship between apoB-100 and apoB-48
    • Cladaras C, Hadzopoulou-Cladaras M, Nolte RT, Atkinson D, Zannis VI (1986) The complete sequence and structural analysis of human apolipoprotein B-100: relationship between apoB-100 and apoB-48. EMBO J 5:3495-3507
    • (1986) EMBO J , vol.5 , pp. 3495-3507
    • Cladaras, C.1    Hadzopoulou-Cladaras, M.2    Nolte, R.T.3    Atkinson, D.4    Zannis, V.I.5
  • 7
    • 0023860891 scopus 로고
    • Apolipoprotein E polymorphism and atherosclerosis
    • Davignon J, Gregg RE, Sing CF (1988) Apolipoprotein E polymorphism and atherosclerosis. Arteriosclerosis 8:1-21
    • (1988) Arteriosclerosis , vol.8 , pp. 1-21
    • Davignon, J.1    Gregg, R.E.2    Sing, C.F.3
  • 10
    • 0015348189 scopus 로고
    • Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of preparative ultracentrifuge
    • Friedewald WT, Levy RI. Fredrickson DS (1972) Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of preparative ultracentrifuge. Clin Chem 18:499-502
    • (1972) Clin Chem , vol.18 , pp. 499-502
    • Friedewald, W.T.1    Levy, R.I.2    Fredrickson, D.S.3
  • 11
    • 0000710395 scopus 로고
    • Familial hypercholesterolemia
    • Scriver CR, Baudet AL, Sly WS, Valle D (eds). McGraw-Hill, New York
    • Goldstein JL, Hobbs HH, Brown MS (1995) Familial hypercholesterolemia. In: Scriver CR, Baudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 1981-2030
    • (1995) The Metabolic Basis of Inherited Disease , pp. 1981-2030
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 12
    • 33745026603 scopus 로고
    • The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum
    • Havel RJ, Eder HA, Bragdon JH (1955) The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest 34:1345-1353
    • (1955) J Clin Invest , vol.34 , pp. 1345-1353
    • Havel, R.J.1    Eder, H.A.2    Bragdon, J.H.3
  • 13
    • 0025257612 scopus 로고
    • Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI
    • Hixon JE, Vernier DT (1990) Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI, J Lipid Res 31:545-548
    • (1990) J Lipid Res , vol.31 , pp. 545-548
    • Hixon, J.E.1    Vernier, D.T.2
  • 14
    • 0025158602 scopus 로고
    • Sequence polymorphism in the human apoB gene at position 8344
    • Huang LS, Gavish D, Breslow JL (1990) Sequence polymorphism in the human apoB gene at position 8344. Nucleic Acids Res 18:5922
    • (1990) Nucleic Acids Res , vol.18 , pp. 5922
    • Huang, L.S.1    Gavish, D.2    Breslow, J.L.3
  • 15
    • 0025885015 scopus 로고
    • ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia
    • Huang LS, Kayden H, Sokol RJ, Breslow JL (1991) ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia. J Lipid Res 32:1341-1348
    • (1991) J Lipid Res , vol.32 , pp. 1341-1348
    • Huang, L.S.1    Kayden, H.2    Sokol, R.J.3    Breslow, J.L.4
  • 16
    • 0026466161 scopus 로고
    • DNA polymorphism studies. Approaches to elucidating multifactorial ischaemic heart disease: The apoB gene as an example
    • Humphries SE, Dunning A, Xu CF, Peacock R, Talmud P, Hamsten A (1992) DNA polymorphism studies. Approaches to elucidating multifactorial ischaemic heart disease: the apoB gene as an example. Ann Med 24:349-356
    • (1992) Ann Med , vol.24 , pp. 349-356
    • Humphries, S.E.1    Dunning, A.2    Xu, C.F.3    Peacock, R.4    Talmud, P.5    Hamsten, A.6
  • 17
    • 0029089877 scopus 로고
    • Two new immunogenetic polymorphisms of the apolipoprotein B gene and their effects on serum lipid levels and responses to changes in dietary fat intake
    • Ilmonen M, Heliö T, Bütler R, Palotie A, Pietinen P, Huttunen JK, Tikkanen MJ (1995) Two new immunogenetic polymorphisms of the apolipoprotein B gene and their effects on serum lipid levels and responses to changes in dietary fat intake. Arterioscler Thromb Vase Biol 15:1287-1293
    • (1995) Arterioscler Thromb Vase Biol , vol.15 , pp. 1287-1293
    • Ilmonen, M.1    Heliö, T.2    Bütler, R.3    Palotie, A.4    Pietinen, P.5    Huttunen, J.K.6    Tikkanen, M.J.7
  • 21
    • 0027772614 scopus 로고
    • Evaluation of running conditions for SSCP analysis: Application of SSCP for detection of point mutations in the LDL receptor gene
    • Leren TP, Solberg K, Roødningen OK, Ose L, Tonstad S, Berg K (l993a) Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene. PCR Methods Appl 3:159-162
    • (1993) PCR Methods Appl , vol.3 , pp. 159-162
    • Leren, T.P.1    Solberg, K.2    Roødningen, O.K.3    Ose, L.4    Tonstad, S.5    Berg, K.6
  • 22
    • 0027463033 scopus 로고
    • Screening for point mutations by semi-automated DNA sequencing using Sequenase and magnetic beads
    • Leren TP, Roødningen OK, Roøsby O, Solberg K, Berg K (1993b) Screening for point mutations by semi-automated DNA sequencing using Sequenase and magnetic beads. Biotechniques 14:618-623
    • (1993) Biotechniques , vol.14 , pp. 618-623
    • Leren, T.P.1    Roødningen, O.K.2    Roøsby, O.3    Solberg, K.4    Berg, K.5
  • 23
    • 0028149181 scopus 로고
    • Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects
    • Leren TP, Solberg K, Roødningen OK, Tonstad S, Ose L (1994) Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects. Atherosclerosis 111:175-182
    • (1994) Atherosclerosis , vol.111 , pp. 175-182
    • Leren, T.P.1    Solberg, K.2    Roødningen, O.K.3    Tonstad, S.4    Ose, L.5
  • 26
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T (1989) Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 29
    • 0030030867 scopus 로고    scopus 로고
    • A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects
    • Sundvold H, Solberg K, Tonstad S, Roødningen OK, Ose L, Berg K, Leren TP (1996) A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects. Hum Mutat 7:70-71
    • (1996) Hum Mutat , vol.7 , pp. 70-71
    • Sundvold, H.1    Solberg, K.2    Tonstad, S.3    Roødningen, O.K.4    Ose, L.5    Berg, K.6    Leren, T.P.7
  • 30
    • 0023196646 scopus 로고
    • Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with hypobetalipoproteinemia
    • Young SG, Bertics SJ, Curtiss LK, Witztum JL (1987) Characterization of an abnormal species of apolipoprotein B, apolipoprotein B-37, associated with hypobetalipoproteinemia. J Clin Invest 79:1831-1841
    • (1987) J Clin Invest , vol.79 , pp. 1831-1841
    • Young, S.G.1    Bertics, S.J.2    Curtiss, L.K.3    Witztum, J.L.4
  • 32
    • 0029585391 scopus 로고    scopus 로고
    • Identification and characterization of truncated forms of apolipoprotein B in hypobetalipoproteinemia
    • Young SG, Krul ES, McCormick S, Farese RV, Linton MF (1996) Identification and characterization of truncated forms of apolipoprotein B in hypobetalipoproteinemia. Methods Enzymol 263:120-145
    • (1996) Methods Enzymol , vol.263 , pp. 120-145
    • Young, S.G.1    Krul, E.S.2    McCormick, S.3    Farese, R.V.4    Linton, M.F.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.