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Volumn 38, Issue 6, 2005, Pages 579-583

A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia

Author keywords

CSGE; Familial Hypercholesterolemia; LDL receptor

Indexed keywords

GENOMIC DNA; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 18844440649     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2005.02.002     Document Type: Article
Times cited : (5)

References (10)
  • 1
    • 18844384219 scopus 로고    scopus 로고
    • Report of a WHO Consultation
    • WHO Paris
    • Report of a WHO Consultation Familial Hypercholesterolemia (FH) 1998 (3 Oct.) WHO Paris
    • (1998) Familial Hypercholesterolemia (FH)
  • 2
    • 0000710395 scopus 로고
    • Familial hypercholesterolemia
    • C.R. Scriver A.L. Beaudet W.S. Sly D. Valle 7th ed. McGraw-Hill Book Co New York, NY
    • J.L. Goldstein, H.H. Hobbs, and M.S. Brown Familial hypercholesterolemia C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Diseases 7th ed. 1995 McGraw-Hill Book Co New York, NY 1981 2030
    • (1995) The Metabolic and Molecular Bases of Inherited Diseases , pp. 1981-2030
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 3
    • 0025685469 scopus 로고
    • Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens
    • J.P. Kane, M.J. Malloy, and T.A. Ports Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens JAMA 264 1990 3007 3012
    • (1990) JAMA , vol.264 , pp. 3007-3012
    • Kane, J.P.1    Malloy, M.J.2    Ports, T.A.3
  • 4
    • 0034676745 scopus 로고    scopus 로고
    • Screening for familial hypercholesterolemia
    • J. Kastelein Screening for familial hypercholesterolemia [Comment] Br. Med. J. 321 2000 1483 1484
    • (2000) Br. Med. J. , vol.321 , pp. 1483-1484
    • Kastelein, J.1
  • 5
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent induced bends in DNA heteroduplexes
    • A. Ganguly, M. Rock, and D.J. Prockop Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent induced bends in DNA heteroduplexes Proc. Natl. Acad. Sci. U. S. A. 90 1993 10325 10329
    • (1993) Proc. Natl. Acad. Sci. U. S. A. , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.2    Prockop, D.J.3
  • 6
    • 0036355460 scopus 로고    scopus 로고
    • Conformation-sensitive gel electrophoresis
    • B.D.M. Theophilus R. Rapley Humana Press, Inc. Totowa (NJ)
    • I.J. Williams, and A.C. Goodeve Conformation-sensitive gel electrophoresis B.D.M. Theophilus R. Rapley Methods in molecular biology 2001 Humana Press, Inc. Totowa (NJ) 137 150
    • (2001) Methods in Molecular Biology , pp. 137-150
    • Williams, I.J.1    Goodeve, A.C.2
  • 7
    • 0032539612 scopus 로고    scopus 로고
    • Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing
    • K. Jarmo, A. Susanna, and P. Tero Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing Proc. Natl. Acad. Sci. U. S. A. 95 (Feb.) 1998 1681 1685
    • (1998) Proc. Natl. Acad. Sci. U. S. A. , vol.95 , pp. 1681-1685
    • Jarmo, K.1    Susanna, A.2    Tero, P.3
  • 8
    • 0028912181 scopus 로고
    • Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519Cys base substitution using conformation sensitive gel electrophoresis
    • C.J. Williams, M. Rock, E. Considine, and McCarron Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519Cys base substitution using conformation sensitive gel electrophoresis Hum. Mol. Genet. 4 1995 309 312
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 309-312
    • Williams, C.J.1    Rock, M.2    Considine, E.3    McCarron4
  • 9
    • 0033057879 scopus 로고    scopus 로고
    • Conformation sensitive gel electrophoresis for precise hemophilia B carrier analysis
    • J.L. Hinks, P.R. Winship, and M. Makris Conformation sensitive gel electrophoresis for precise hemophilia B carrier analysis Br. J. Haematol. 104 1999 915 918
    • (1999) Br. J. Haematol. , vol.104 , pp. 915-918
    • Hinks, J.L.1    Winship, P.R.2    Makris, M.3
  • 10
    • 0030836649 scopus 로고    scopus 로고
    • Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia
    • I.N.M. Day, R.A. Whittall, and S.D. O'Dell Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia Hum. Mutat. 10 1997 116 127
    • (1997) Hum. Mutat. , vol.10 , pp. 116-127
    • Day, I.N.M.1    Whittall, R.A.2    O'Dell, S.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.