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Volumn 12, Issue 4, 1998, Pages 255-258

Prevalence of Lithuanian mutation among St. Petersburg jews with familial hypercholesterolemia

Author keywords

Familial hypercholesterolemia; Jewish mutation; LDLR gene; SSCP analysis

Indexed keywords

ALLELE; ARTICLE; DNA DETERMINATION; DNA SEQUENCE; ETHNIC GROUP; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; HUMAN; HUMAN CELL; JEW; POLYACRYLAMIDE GEL ELECTROPHORESIS; PREVALENCE; PRIORITY JOURNAL; RECEPTOR GENE; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 7344222069     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:4<255::AID-HUMU6>3.0.CO;2-E     Document Type: Article
Times cited : (14)

References (12)
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    • (1893) Encyclopedic Vocabulary , vol.11 , pp. 453-454
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  • 2
    • 0002230202 scopus 로고
    • Familial hypercholesterolemia
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    • Goldstein JL, Brown MS (1989) Familial hypercholesterolemia. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Disease. 6th Ed. New York: McGraw-Hill, pp 1577-1698.
    • (1989) The Metabolic Basis of Inherited Disease. 6th Ed. , pp. 1577-1698
    • Goldstein, J.L.1    Brown, M.S.2
  • 3
    • 0027459226 scopus 로고
    • Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia m the United Kingdom
    • Gudnason V, King-Underwood L, Seed M, Sun XM, Soutar AK, Humphries SE (1993) Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia m the United Kingdom. Arterioscler Thromb 13:56-63.
    • (1993) Arterioscler Thromb , vol.13 , pp. 56-63
    • Gudnason, V.1    King-Underwood, L.2    Seed, M.3    Sun, X.M.4    Soutar, A.K.5    Humphries, S.E.6
  • 4
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    • The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
    • Hobbs HH, Russell DW, Brown MS, Goldstein JL (1990) The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein. Annu Rev Genet 24:133-170.
    • (1990) Annu Rev Genet , vol.24 , pp. 133-170
    • Hobbs, H.H.1    Russell, D.W.2    Brown, M.S.3    Goldstein, J.L.4
  • 5
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolemia
    • Hobbs HH, Brown MS, Goldstein JL (1992) Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat 1:445-466.
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 6
    • 0029118419 scopus 로고
    • Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: Identification of two common missense mutations (Gly823-Asp and Leu 380-His) and eight rare mutations of the LDL receptor gene
    • Koivisto UM, Viikari JS, Kontula K (1995) Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: Identification of two common missense mutations (Gly823-Asp and Leu 380-His) and eight rare mutations of the LDL receptor gene. Am J Hum Genet 57:789-797.
    • (1995) Am J Hum Genet , vol.57 , pp. 789-797
    • Koivisto, U.M.1    Viikari, J.S.2    Kontula, K.3
  • 7
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    • A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg
    • Mandelshtam MJu, Lipovetskyi BM, Schwartzman AL, Gaitskhoki VS (1993) A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg. Hum Mutat 2:256-260.
    • (1993) Hum Mutat , vol.2 , pp. 256-260
    • Mandelshtam, M.Ju.1    Lipovetskyi, B.M.2    Schwartzman, A.L.3    Gaitskhoki, V.S.4
  • 9
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    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.