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Volumn 37, Issue 9, 2001, Pages 1082-1087

Four New Mutations and Two Polymorphic Variants of the Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from St. Petersburg

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EID: 0347670390     PISSN: 10227954     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1011973817437     Document Type: Article
Times cited : (7)

References (16)
  • 1
    • 0000710395 scopus 로고
    • Familial Hypercholesterolemia
    • Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., New York: McGraw-Hill
    • Goldstein, J.L., Hobbs, H.H., and Brown, M.S., Familial Hypercholesterolemia, The Metabolic Basis of Inherited Diseases, Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Eds., New York: McGraw-Hill, 1995, pp. 1981-2030.
    • (1995) The Metabolic Basis of Inherited Diseases , pp. 1981-2030
    • Goldstein, J.L.1    Hobbs, H.H.2    Brown, M.S.3
  • 2
    • 0027172545 scopus 로고
    • A Novel Deletion in the Low Density Lipoprotein Receptor Gene in a Patient with Familial Hypercholesterolemia from Petersburg
    • Mandelshtam, M.Ju., Lipovetskyi, B.M., Schwartzman, A.L., and Gaitskhoki, V.S., A Novel Deletion in the Low Density Lipoprotein Receptor Gene in a Patient with Familial Hypercholesterolemia From Petersburg, Hum. Mutat., 1993, vol. 2, no. 4, pp. 256-260.
    • (1993) Hum. Mutat. , vol.2 , Issue.4 , pp. 256-260
    • Mandelshtam, M.Ju.1    Lipovetskyi, B.M.2    Schwartzman, A.L.3    Gaitskhoki, V.S.4
  • 3
    • 0028990070 scopus 로고
    • Molecular Heterogeneity of Familial Hypercholesterolemia in the St. Petersburg Population
    • Moscow
    • Mandel'shtam, M.Yu., Lipovetskii, B.M., Shvartsman, A.L., and Gaitskhoki, V.S., Molecular Heterogeneity of Familial Hypercholesterolemia in the St. Petersburg Population, Genetika (Moscow), 1995, vol. 31, no. 4, pp. 521-527.
    • (1995) Genetika , vol.31 , Issue.4 , pp. 521-527
    • Mandel'shtam, M.Yu.1    Lipovetskii, B.M.2    Shvartsman, A.L.3    Gaitskhoki, V.S.4
  • 4
    • 7344222069 scopus 로고    scopus 로고
    • Prevalence of Lithuanian Mutation among St. Petersburg Jews with Familial Hypercholesterolemia
    • Mandelshtam, M.Ju., Chakir, Kh., Shevtsov, S.P., et al., Prevalence of Lithuanian Mutation among St. Petersburg Jews with Familial Hypercholesterolemia, Human. Mutat., 1998, vol. 12, pp. 255-258.
    • (1998) Human. Mutat. , vol.12 , pp. 255-258
    • Mandelshtam, M.Ju.1    Chakir, Kh.2    Shevtsov, S.P.3
  • 5
    • 0032441342 scopus 로고    scopus 로고
    • Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCS) in St. Petersburg Familial Hypercholesterolemia
    • Chakir, Kh., Mandelshtam, M.Ju., Shevtsov, S.P., et al., Two Novel Low-Density Lipoprotein Receptor Gene Mutations (E397X and 347delGCS) in St. Petersburg Familial Hypercholesterolemia, Mol. Genet. Metab., 1998, vol. 65, pp. 311-314.
    • (1998) Mol. Genet. Metab. , vol.65 , pp. 311-314
    • Chakir, Kh.1    Mandelshtam, M.Ju.2    Shevtsov, S.P.3
  • 6
    • 0347688350 scopus 로고    scopus 로고
    • New Mutation 347delGCC in the Human Low-Density Lipoprotein Receptor
    • Mandel'shtam, M.Yu., Golubkov, V.I., Shur, Yu.A., et al., New Mutation 347delGCC in the Human Low-Density Lipoprotein Receptor, Bioorg. Khim., 1998, vol. 24, no. 10, pp. 768-770.
    • (1998) Bioorg. Khim. , vol.24 , Issue.10 , pp. 768-770
    • Mandel'shtam, M.Yu.1    Golubkov, V.I.2    Shur, Yu.A.3
  • 7
    • 17044461643 scopus 로고    scopus 로고
    • Clinical Genetic Aspects of Familial Hypercholesterolemia and Their Applied Significance
    • Lipovetskii, B.M., Mandel'shtam, M.Yu., Gaitskhoki, V.S., and Vasil'eva, L.E., Clinical Genetic Aspects of Familial Hypercholesterolemia and Their Applied Significance, Ter. Arkh., 1996, vol. 68, no. 1, pp. 24-29.
    • (1996) Ter. Arkh. , vol.68 , Issue.1 , pp. 24-29
    • Lipovetskii, B.M.1    Mandel'shtam, M.Yu.2    Gaitskhoki, V.S.3    Vasil'eva, L.E.4
  • 8
    • 1842353216 scopus 로고
    • Analyses of Human Y Chromosome-Specific Reiterated DNA in Chromosome Variants
    • Kunkel, L.M., Smith, K.D., Boyer, S.H., et al., Analyses of Human Y Chromosome-Specific Reiterated DNA in Chromosome Variants, Proc. Natl. Acad. Sci. USA, 1977, vol. 74, pp. 1245-1249.
    • (1977) Proc. Natl. Acad. Sci. USA , vol.74 , pp. 1245-1249
    • Kunkel, L.M.1    Smith, K.D.2    Boyer, S.H.3
  • 9
    • 0027026881 scopus 로고
    • Molecular Genetics of the LDL Receptor Gene in Familial Hypercholesterolemia
    • Hobbs, H.H., Brown, M.S., and Goldstein, J.L., Molecular Genetics of the LDL Receptor Gene in Familial Hypercholesterolemia, Hum. Mutat., 1992, vol. 1, pp. 445-466.
    • (1992) Hum. Mutat. , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 12
    • 0026549893 scopus 로고
    • Detecting Single Base Substitutions as Heteroduplex Polymorphisms
    • White, M.B., Carvalho, M., Derse, D., et al., Detecting Single Base Substitutions as Heteroduplex Polymorphisms, Genomics, 1992, vol. 12, pp. 301-306.
    • (1992) Genomics , vol.12 , pp. 301-306
    • White, M.B.1    Carvalho, M.2    Derse, D.3
  • 13
    • 0024595101 scopus 로고
    • Detection of Polymorphism of Human DNA by Gel Electrophoresis as Single Strand Conformational Polymorphism
    • Orita, M., Iwahana, H., Sekiya, T., Hayashi, K., et al., Detection of Polymorphism of Human DNA by Gel Electrophoresis as Single Strand Conformational Polymorphism, Proc. Natl. Acad. Sci. USA, 1990, vol. 86, pp. 2766-2770.
    • (1990) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Sekiya, T.3    Hayashi, K.4
  • 14
  • 15
    • 0029779010 scopus 로고    scopus 로고
    • High Sensitivity of the Single-Strand Conformation Polymorphism Method for Detecting Sequence Variations in the Low-Density Lipoprotein Receptor Gene Validated by DNA Sequencing
    • Washington, DC
    • Jensen, H.K., Jensen, L.G., Hansen, P.S., et al., High Sensitivity of the Single-Strand Conformation Polymorphism Method for Detecting Sequence Variations in the Low-Density Lipoprotein Receptor Gene Validated by DNA Sequencing, Clin. Chem. (Washington, DC), 1996, vol. 42, pp. 1140-1146.
    • (1996) Clin. Chem. , vol.42 , pp. 1140-1146
    • Jensen, H.K.1    Jensen, L.G.2    Hansen, P.S.3
  • 16
    • 0026664117 scopus 로고
    • Detection of a Frequent Polymorphism in Exon 10 of the Low-Density Lipoprotein Receptor Gene
    • Warnich, L., Kotze, M.J., Langenhoven, E., and Retief, A.E., Detection of a Frequent Polymorphism in Exon 10 of the Low-Density Lipoprotein Receptor Gene, Hum. Genet., 1992, vol. 89, no. 3, p. 362.
    • (1992) Hum. Genet. , vol.89 , Issue.3 , pp. 362
    • Warnich, L.1    Kotze, M.J.2    Langenhoven, E.3    Retief, A.E.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.