메뉴 건너뛰기




Volumn 44, Issue 7, 1998, Pages 1388-1396

Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN; APOLIPOPROTEIN C2; CHOLESTEROL; LIPID; LIPOPROTEIN; TRIACYLGLYCEROL;

EID: 0031803628     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.7.1388     Document Type: Article
Times cited : (25)

References (55)
  • 1
    • 0021348012 scopus 로고
    • Amino acid sequence of human plasma apolipoprotein CII from normal and hyperlipoproteinemic subjects
    • Hospattankar AV, Fairwell T, Ronan R, Brewer HB Jr. Amino acid sequence of human plasma apolipoprotein CII from normal and hyperlipoproteinemic subjects. J Biol Chem 1984;259:318-22.
    • (1984) J Biol Chem , vol.259 , pp. 318-322
    • Hospattankar, A.V.1    Fairwell, T.2    Ronan, R.3    Brewer Jr., H.B.4
  • 2
    • 0018291160 scopus 로고
    • Relative contributions by liver and intestine to individual plasma apolipoproteins in the rat
    • Wu AL, Windmueller HG. Relative contributions by liver and intestine to individual plasma apolipoproteins in the rat. J Biol Chem 1979;254:7316-22.
    • (1979) J Biol Chem , vol.254 , pp. 7316-7322
    • Wu, A.L.1    Windmueller, H.G.2
  • 3
    • 0023711792 scopus 로고
    • Apolipoproteins and lipoproteins in human plasma: An overview
    • Brewer HB Jr, Gregg RE, Hoeg JM, Fojo SS. Apolipoproteins and lipoproteins in human plasma: an overview [Review]. Clin Chem 1988;34:B4-8.
    • (1988) Clin Chem , vol.34
    • Brewer Jr., H.B.1    Gregg, R.E.2    Hoeg, J.M.3    Fojo, S.S.4
  • 4
    • 0029945818 scopus 로고    scopus 로고
    • Construction and functional characterization of recombinant fusion proteins of human lipoprotein lipase and apolipoprotein CII
    • Hoffmann MM, Stoffel W. Construction and functional characterization of recombinant fusion proteins of human lipoprotein lipase and apolipoprotein CII. Eur J Biochem 1996;237:545-52.
    • (1996) Eur J Biochem , vol.237 , pp. 545-552
    • Hoffmann, M.M.1    Stoffel, W.2
  • 5
    • 0020045920 scopus 로고
    • Apolipoprotein and lipoprotein concentrations in familial apolipoprotein CII deficiency
    • Breckenridge WC, Alaupovic P, Cox DW, Little JA. Apolipoprotein and lipoprotein concentrations in familial apolipoprotein CII deficiency. Atherosclerosis 1982;44:223-35.
    • (1982) Atherosclerosis , vol.44 , pp. 223-235
    • Breckenridge, W.C.1    Alaupovic, P.2    Cox, D.W.3    Little, J.A.4
  • 6
    • 0002330773 scopus 로고
    • Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Brunzell JD. Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited diseases. New York: McGraw-Hill, 1989:1165-80.
    • (1989) The Metabolic Basis of Inherited Diseases , pp. 1165-1180
    • Brunzell, J.D.1
  • 7
    • 0027297330 scopus 로고
    • Heterozygous apolipoprotein CII deficiency: Lipoprotein and apoprotein phenotype and Rsal restriction enzyme polymorphism in the apo CII-Padova kindred
    • Gabelli C, Bilato C, Santamarina-Fojo S, Martini S, Brewer HB Jr, Crepaldi G, Baggio G. Heterozygous apolipoprotein CII deficiency: lipoprotein and apoprotein phenotype and Rsal restriction enzyme polymorphism in the apo CII-Padova kindred. Eur J Clin Invest 1993;23:522-8.
    • (1993) Eur J Clin Invest , vol.23 , pp. 522-528
    • Gabelli, C.1    Bilato, C.2    Santamarina-Fojo, S.3    Martini, S.4    Brewer Jr., H.B.5    Crepaldi, G.6    Baggio, G.7
  • 8
    • 0020575357 scopus 로고
    • Plasma lipids lipoproteins and apoproteins in a case of apo CII deficiency
    • Catapano AL, Mills GL, Roma P, La Rosa M, Capurso A. Plasma lipids lipoproteins and apoproteins in a case of apo CII deficiency. Clin Chim Acta 1983;130:317-27.
    • (1983) Clin Chim Acta , vol.130 , pp. 317-327
    • Catapano, A.L.1    Mills, G.L.2    Roma, P.3    La Rosa, M.4    Capurso, A.5
  • 9
    • 0028331148 scopus 로고
    • Overexpression of apolipoprotein CII causes hypertriglyceridemia in transgenic mice
    • Shachter NS, Hayek T, Leff T, Smith JD, Rosenberg DW, Walsh A, et al. Overexpression of apolipoprotein CII causes hypertriglyceridemia in transgenic mice. J Clin Invest 1994;93:1683-90.
    • (1994) J Clin Invest , vol.93 , pp. 1683-1690
    • Shachter, N.S.1    Hayek, T.2    Leff, T.3    Smith, J.D.4    Rosenberg, D.W.5    Walsh, A.6
  • 10
    • 0023158487 scopus 로고
    • The human preproapolipoprotein CII gene. Complete nucleic acid sequence and genomic organization
    • Fojo SS, Law SW, Brewer HB Jr. The human preproapolipoprotein CII gene. Complete nucleic acid sequence and genomic organization. FEBS Lett 1987;213:221-6.
    • (1987) FEBS Lett , vol.213 , pp. 221-226
    • Fojo, S.S.1    Law, S.W.2    Brewer Jr., H.B.3
  • 12
    • 0023522662 scopus 로고
    • Apolipoprotein CII-St. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease
    • Connelly PW, Maguire GF, Little JA. Apolipoprotein CII-St. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease. J Clin Invest 1987;80:1597-606.
    • (1987) J Clin Invest , vol.80 , pp. 1597-1606
    • Connelly, P.W.1    Maguire, G.F.2    Little, J.A.3
  • 13
    • 0025367102 scopus 로고
    • Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari)
    • Crecchio C, Capurso A, Pepe G. Identification of the mutation responsible for a case of plasmatic apolipoprotein CII deficiency (Apo CII-Bari). Biochem Biophys Res Commun 1990;168:1118-27.
    • (1990) Biochem Biophys Res Commun , vol.168 , pp. 1118-1127
    • Crecchio, C.1    Capurso, A.2    Pepe, G.3
  • 14
    • 0024207685 scopus 로고
    • Donor splice site mutation in the apolipoprotein (Apo) CII gene (Apo CII-Hamburg) of a patient with Apo CII deficiency
    • Fojo SS, Beisiegel U, Beil U, Higuchi K, Bojanovski M, Gregg RE, et al. Donor splice site mutation in the apolipoprotein (Apo) CII gene (Apo CII-Hamburg) of a patient with Apo CII deficiency. J Clin Invest 1988;82:1489-94.
    • (1988) J Clin Invest , vol.82 , pp. 1489-1494
    • Fojo, S.S.1    Beisiegel, U.2    Beil, U.3    Higuchi, K.4    Bojanovski, M.5    Gregg, R.E.6
  • 15
    • 0024266297 scopus 로고
    • A deletion mutation in the apo CII gene (apo CII-Nijmegen) of a patient with a deficiency of apolipoprotein CII
    • Fojo SS, Stalenhoef AF, Marr K, Gregg RE, Ross RS, Brewer HB Jr. A deletion mutation in the apo CII gene (apo CII-Nijmegen) of a patient with a deficiency of apolipoprotein CII. J Biol Chem 1988;263:17913-6.
    • (1988) J Biol Chem , vol.263 , pp. 17913-17916
    • Fojo, S.S.1    Stalenhoef, A.F.2    Marr, K.3    Gregg, R.E.4    Ross, R.S.5    Brewer Jr., H.B.6
  • 16
    • 0024797896 scopus 로고
    • An initiation codon mutation in the apo CII gene (apo CII-Paris) of a patient with a deficiency of apolipoprotein CII
    • Fojo SS, de Gennes JL, Chapman J, Parrott C, Lohse P, Kwan SS, et al. An initiation codon mutation in the apo CII gene (apo CII-Paris) of a patient with a deficiency of apolipoprotein CII. J Biol Chem 1989;264:20839-42.
    • (1989) J Biol Chem , vol.264 , pp. 20839-20842
    • Fojo, S.S.1    De Gennes, J.L.2    Chapman, J.3    Parrott, C.4    Lohse, P.5    Kwan, S.S.6
  • 20
    • 0027462707 scopus 로고
    • Molecular cloning and characteristics of a new apolipoprotein CII mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia
    • Pullinger CR, ZySow BR, Hennessy LK, Frost PH, Malloy MJ, Kane JP. Molecular cloning and characteristics of a new apolipoprotein CII mutant identified in three unrelated individuals with hypercholesterolemia and hypertriglyceridemia. Hum Mol Genet 1993;2: 69-74.
    • (1993) Hum Mol Genet , vol.2 , pp. 69-74
    • Pullinger, C.R.1    Zysow, B.R.2    Hennessy, L.K.3    Frost, P.H.4    Malloy, M.J.5    Kane, J.P.6
  • 22
    • 0030475812 scopus 로고    scopus 로고
    • A single nucleotide substitution in the promoter region of the apolipoprotein CII gene identified in individuals with chylomicronemia
    • Streicher R, Geisel J, Weisshaar C, Avci H, Oette K, Müller-Wieland D. A single nucleotide substitution in the promoter region of the apolipoprotein CII gene identified in individuals with chylomicronemia. J Lipid Res 1996;37:2599-607.
    • (1996) J Lipid Res , vol.37 , pp. 2599-2607
    • Streicher, R.1    Geisel, J.2    Weisshaar, C.3    Avci, H.4    Oette, K.5    Müller-Wieland, D.6
  • 23
    • 0023616972 scopus 로고
    • Apolipoproteins CII, CIII in serum quantified by zone immunoelectrophoresis assay
    • März W, Schenk G, Gross W. Apolipoproteins CII, CIII in serum quantified by zone immunoelectrophoresis assay. Clin Chem 1987;33:664-9.
    • (1987) Clin Chem , vol.33 , pp. 664-669
    • März, W.1    Schenk, G.2    Gross, W.3
  • 24
    • 0023685528 scopus 로고
    • Isoelectric focusing of apolipoproteins in immobilized pH gradients: Improved determination of apolipoprotein E phenotypes
    • Baumstark MW, Berg A, Halle M, Keul J. Isoelectric focusing of apolipoproteins in immobilized pH gradients: improved determination of apolipoprotein E phenotypes. Electrophoresis 1988;9: 576-9.
    • (1988) Electrophoresis , vol.9 , pp. 576-579
    • Baumstark, M.W.1    Berg, A.2    Halle, M.3    Keul, J.4
  • 25
    • 0026078617 scopus 로고
    • Immunoblotting of apolipoprotein E in immobilized pH gradients
    • März W, Cezanne S, Gross W. Immunoblotting of apolipoprotein E in immobilized pH gradients. Electrophoresis 1991;12:59-63.
    • (1991) Electrophoresis , vol.12 , pp. 59-63
    • März, W.1    Cezanne, S.2    Gross, W.3
  • 26
    • 0019050871 scopus 로고
    • Separation of random fragments of DNA according to properties of their sequences
    • Fischer SG, Lerman LS. Separation of random fragments of DNA according to properties of their sequences. Proc Natl Acad Sei U S A 1980;77:4420-4.
    • (1980) Proc Natl Acad Sei U S A , vol.77 , pp. 4420-4424
    • Fischer, S.G.1    Lerman, L.S.2
  • 27
    • 0027278060 scopus 로고
    • Rapid and simple subtyping of the HLA-DRB3 gene in Graves' disease using temperature gradient gel electrophoresis
    • Chen M, März W, Manfras BJ, Kühnl P, Usadel KH, Böhm BO. Rapid and simple subtyping of the HLA-DRB3 gene in Graves' disease using temperature gradient gel electrophoresis. Hum Immunol 1993;36:199-203.
    • (1993) Hum Immunol , vol.36 , pp. 199-203
    • Chen, M.1    März, W.2    Manfras, B.J.3    Kühnl, P.4    Usadel, K.H.5    Böhm, B.O.6
  • 28
    • 0028265958 scopus 로고
    • Typing of the HLA-DRB3 gene by temperature gradient gel electrophoresis: Prediction of the resolution of four allelic fragments by computational simulation of DNA melting
    • Chen M, März W, Usadel K, Scheurmann E, Böhm BO. Typing of the HLA-DRB3 gene by temperature gradient gel electrophoresis: prediction of the resolution of four allelic fragments by computational simulation of DNA melting. J Immunol Meth 1994;168: 257-65.
    • (1994) J Immunol Meth , vol.168 , pp. 257-265
    • Chen, M.1    März, W.2    Usadel, K.3    Scheurmann, E.4    Böhm, B.O.5
  • 29
    • 0027485290 scopus 로고
    • 112 → Arg) by polymerase chain reaction, restriction isotyping and temperature gradient gel electrophoresis
    • 112 → Arg) by polymerase chain reaction, restriction isotyping and temperature gradient gel electrophoresis. Electrophoresis 1993;14:1032-7.
    • (1993) Electrophoresis , vol.14 , pp. 1032-1037
    • Ruzicka, V.1    März, W.2    Russ, A.3    Fisher, E.4    Mondorf, W.5    Gross, W.6
  • 30
    • 33745026603 scopus 로고
    • The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum
    • Havel RJ, Eder HA, Bragdon JH. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest 1955;34:1345-53.
    • (1955) J Clin Invest , vol.34 , pp. 1345-1353
    • Havel, R.J.1    Eder, H.A.2    Bragdon, J.H.3
  • 31
    • 0002345735 scopus 로고
    • Preparative ultracentrifuge laboratory procedures and suggestions for lipoprotein analysis
    • Perkins EG, ed. Champaign, IL: Am Oil Chem Soc
    • Lindgren FT. Preparative ultracentrifuge laboratory procedures and suggestions for lipoprotein analysis. In: Perkins EG, ed. Analysis of lipids and lipoproteins. Champaign, IL: Am Oil Chem Soc, 1975:204-24.
    • (1975) Analysis of Lipids and Lipoproteins , pp. 204-224
    • Lindgren, F.T.1
  • 32
    • 0025868655 scopus 로고
    • Effect of HMG-CoA reductase inhibitors in hypercholesterolemic patients on hemodialysis
    • Wanner D, Hörl WH, Luley CH, Wieland H. Effect of HMG-CoA reductase inhibitors in hypercholesterolemic patients on hemodialysis. Kidney Int 1991;31:754-9.
    • (1991) Kidney Int , vol.31 , pp. 754-759
    • Wanner, D.1    Hörl, W.H.2    Luley, C.H.3    Wieland, H.4
  • 33
    • 0023178382 scopus 로고
    • The human apolipoprotein CII gene sequence contains a novel chromosome 19-specific minisatellite in its third intron
    • Das HK, Jackson CL, Miller DA, Leff T, Breslow JL. The human apolipoprotein CII gene sequence contains a novel chromosome 19-specific minisatellite in its third intron. J Biol Chem 1987;262: 4787-93.
    • (1987) J Biol Chem , vol.262 , pp. 4787-4793
    • Das, H.K.1    Jackson, C.L.2    Miller, D.A.3    Leff, T.4    Breslow, J.L.5
  • 34
    • 0023476284 scopus 로고
    • Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
    • Lerman LS, Silverstein K. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 1987;155:482-501.
    • (1987) Methods Enzymol , vol.155 , pp. 482-501
    • Lerman, L.S.1    Silverstein, K.2
  • 35
    • 0029781013 scopus 로고    scopus 로고
    • Clinically applicable mutation screening in familial hypercholesterolemia
    • Nissen H, Guldberg P, Hansen AB, Petersen NE, Horder M. Clinically applicable mutation screening in familial hypercholesterolemia. Hum Mutat 1996;8:168-77.
    • (1996) Hum Mutat , vol.8 , pp. 168-177
    • Nissen, H.1    Guldberg, P.2    Hansen, A.B.3    Petersen, N.E.4    Horder, M.5
  • 36
    • 0021714340 scopus 로고
    • Apolipoprotein CII deficiency associated with nonfunctional mutant forms of apolipoprotein CII
    • Maguire GF, Little JA, Kakis G, Breckenridge WC. Apolipoprotein CII deficiency associated with nonfunctional mutant forms of apolipoprotein CII. Can J Biochem Cell Biol 1984;62:847-52.
    • (1984) Can J Biochem Cell Biol , vol.62 , pp. 847-852
    • Maguire, G.F.1    Little, J.A.2    Kakis, G.3    Breckenridge, W.C.4
  • 37
    • 0024021305 scopus 로고
    • Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
    • Cotton RG, Rodrigues NR, Campbell RD. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci U S A 1988;85:4397-401.
    • (1988) Proc Natl Acad Sci U S A , vol.85 , pp. 4397-4401
    • Cotton, R.G.1    Rodrigues, N.R.2    Campbell, R.D.3
  • 38
    • 0022353404 scopus 로고
    • Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes
    • Myers RM, Larin Z, Maniatis T. Detection of single base substitutions by ribonuclease cleavage at mismatches in RNA:DNA duplexes. Science 1985;230:1242-6.
    • (1985) Science , vol.230 , pp. 1242-1246
    • Myers, R.M.1    Larin, Z.2    Maniatis, T.3
  • 40
    • 0026549893 scopus 로고
    • Detecting single base substitutions as heteroduplex polymorphisms
    • White MB, Carvalho M, Derse D, O'Brien SJ, Dean M. Detecting single base substitutions as heteroduplex polymorphisms. Genomics 1992;12:301-6.
    • (1992) Genomics , vol.12 , pp. 301-306
    • White, M.B.1    Carvalho, M.2    Derse, D.3    O'Brien, S.J.4    Dean, M.5
  • 41
    • 0027435938 scopus 로고
    • The rapid detection of unknown mutations in nucleic acids
    • Grompe M. The rapid detection of unknown mutations in nucleic acids [Review]. Nat Genet 1993;5:111-7.
    • (1993) Nat Genet , vol.5 , pp. 111-117
    • Grompe, M.1
  • 42
    • 0030791025 scopus 로고    scopus 로고
    • Methods for detection of point mutations-performance and quality assessment
    • Nollau P, Wagener C. Methods for detection of point mutations-performance and quality assessment [Review]. Clin Chem 1997; 43:1114-28.
    • (1997) Clin Chem , vol.43 , pp. 1114-1128
    • Nollau, P.1    Wagener, C.2
  • 43
    • 0025813473 scopus 로고
    • Protocols for an improved detectior of point mutations by SSCP
    • Spinardi L, Mazars R, Theillet C. Protocols for an improved detectior of point mutations by SSCP. Nucleic Acids Res 1991; 19:4009.
    • (1991) Nucleic Acids Res , vol.19 , pp. 4009
    • Spinardi, L.1    Mazars, R.2    Theillet, C.3
  • 44
    • 0028901081 scopus 로고
    • Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing
    • Lombardi P, Sijbrands EJ, van de Giessen K, Smelt AH, Kastelein JJ, Frants RR, Havekes LM. Mutations in the low density lipoprotein receptor gene of familial hypercholesterolemic patients detected by denaturing gradient gel electrophoresis and direct sequencing. J Lipid Res 1995;36:860-7.
    • (1995) J Lipid Res , vol.36 , pp. 860-867
    • Lombardi, P.1    Sijbrands, E.J.2    Van De Giessen, K.3    Smelt, A.H.4    Kastelein, J.J.5    Frants, R.R.6    Havekes, L.M.7
  • 45
    • 0029059348 scopus 로고
    • An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia
    • Ekstrom U, Abrahamson M, Sveger T, Lombardi P, Nilsson-Ehle P. An efficient screening procedure detecting six novel mutations in the LDL receptor gene in Swedish children with hypercholesterolemia. Hum Genet 1995;96:147-50.
    • (1995) Hum Genet , vol.96 , pp. 147-150
    • Ekstrom, U.1    Abrahamson, M.2    Sveger, T.3    Lombardi, P.4    Nilsson-Ehle, P.5
  • 46
    • 0028898785 scopus 로고
    • Mutation screening of the codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis
    • Nissen H, Hansen PS, Faergeman O, Horder M. Mutation screening of the codon 3500 region of the apolipoprotein B gene by denaturing gradient-gel electrophoresis. Clin Chem 1995;41: 419-23.
    • (1995) Clin Chem , vol.41 , pp. 419-423
    • Nissen, H.1    Hansen, P.S.2    Faergeman, O.3    Horder, M.4
  • 47
    • 0027524456 scopus 로고
    • Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: No cosegregation with severe hyperlipidemia
    • van den Maagdenberg AM, Weng W, de Bruijn IH, de Knijff P, Funke H, Smelt AHM, et al. Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia. Am J Hum Genet 1993;52:937-46.
    • (1993) Am J Hum Genet , vol.52 , pp. 937-946
    • Van Den Maagdenberg, A.M.1    Weng, W.2    De Bruijn, I.H.3    De Knijff, P.4    Funke, H.5    Smelt, A.H.M.6
  • 48
    • 0027311977 scopus 로고
    • Application of denaturing gradient gel electrophoresis to detect DNA sequence differences encoding apolipoprotein E isoforms
    • Parker S, Angelico MC, Laffel L, Krolewski AS. Application of denaturing gradient gel electrophoresis to detect DNA sequence differences encoding apolipoprotein E isoforms. Genomics 1993; 16:245-7.
    • (1993) Genomics , vol.16 , pp. 245-247
    • Parker, S.1    Angelico, M.C.2    Laffel, L.3    Krolewski, A.S.4
  • 50
    • 0028260960 scopus 로고
    • Relative efficiency of denaturing gradient gel electrophoresis and single strand conformation polymorphism in the detection of mutations in exons 5 to 8 of the p53 gene
    • Moyret C, Theillet C, Puig PL, Moles JP, Thomas G, Hamelin R. Relative efficiency of denaturing gradient gel electrophoresis and single strand conformation polymorphism in the detection of mutations in exons 5 to 8 of the p53 gene. Oncogene 1994;9: 1739-43.
    • (1994) Oncogene , vol.9 , pp. 1739-1743
    • Moyret, C.1    Theillet, C.2    Puig, P.L.3    Moles, J.P.4    Thomas, G.5    Hamelin, R.6
  • 51
    • 0027193630 scopus 로고
    • The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions
    • Sheffield VC, Beck JS, Kwitek AE, Sandstrom DW, Stone EM. The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions. Genomics 1993; 16:325-32.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5
  • 52
    • 0027177691 scopus 로고
    • Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis
    • Guldberg P, Henriksen KF, Guttler F. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis. Genomics 1993;17: 141-6.
    • (1993) Genomics , vol.17 , pp. 141-146
    • Guldberg, P.1    Henriksen, K.F.2    Guttler, F.3
  • 53
    • 0027169164 scopus 로고
    • Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
    • Tartary M, Vidaud D, Piao Y, Costa JM, Bahnak BR, Fressinaud E, et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 1993;84:662-9.
    • (1993) Br J Haematol , vol.84 , pp. 662-669
    • Tartary, M.1    Vidaud, D.2    Piao, Y.3    Costa, J.M.4    Bahnak, B.R.5    Fressinaud, E.6
  • 54
    • 0031000605 scopus 로고    scopus 로고
    • Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis
    • Nissen H, Petersen NE, Mustajoki S, Hansen TS, Mustajoki P, Kauppinen R, Horder M. Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis. Hum Mutat 1997;9:122-30.
    • (1997) Hum Mutat , vol.9 , pp. 122-130
    • Nissen, H.1    Petersen, N.E.2    Mustajoki, S.3    Hansen, T.S.4    Mustajoki, P.5    Kauppinen, R.6    Horder, M.7
  • 55
    • 0025847428 scopus 로고
    • Variation within intron 3 of the apolipoprotein CII gene
    • Hegele RA, Tu L. Variation within intron 3 of the apolipoprotein CII gene. Nucleic Acids Res 1991;19:3162.-
    • (1991) Nucleic Acids Res , vol.19 , pp. 3162
    • Hegele, R.A.1    Tu, L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.