메뉴 건너뛰기




Volumn 35, Issue 7, 1998, Pages 573-578

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland

Author keywords

Familial hypercholesterolaemia (FH); Low density lipoprotein receptor (LDLR); Microplate array diagonal gel electrophoresis (MADGE)

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR; MICROSATELLITE DNA;

EID: 17344372174     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.7.573     Document Type: Article
Times cited : (15)

References (13)
  • 1
    • 0002230202 scopus 로고
    • Familial hypercholesterolaemia
    • Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
    • Goldstein JL, Brown MS. Familial hypercholesterolaemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease. New York: McGraw-Hill, 1989:1215-50.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1215-1250
    • Goldstein, J.L.1    Brown, M.S.2
  • 2
    • 0027026881 scopus 로고
    • Molecular genetics of the LDL receptor gene in familial hypercholesterolaemia
    • Hobbs HH, Brown MS, Goldstein JL. Molecular genetics of the LDL receptor gene in familial hypercholesterolaemia. Hum Mutat 1992;1:445-66.
    • (1992) Hum Mutat , vol.1 , pp. 445-466
    • Hobbs, H.H.1    Brown, M.S.2    Goldstein, J.L.3
  • 3
    • 0027459226 scopus 로고
    • Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom
    • Gudnason V, Kingunderwood L, Seed M, et al. Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom. Arterioscler Thromb 1993;13:56-63.
    • (1993) Arterioscler Thromb , vol.13 , pp. 56-63
    • Gudnason, V.1    Kingunderwood, L.2    Seed, M.3
  • 4
    • 0029977524 scopus 로고    scopus 로고
    • A deletion in the first cysteine rich repeat of the low density lipoprotein receptor leads to the formation of multiple misfolded isomers
    • Djordjevic JT, Bieri S, Smith R, Kroon PA. A deletion in the first cysteine rich repeat of the low density lipoprotein receptor leads to the formation of multiple misfolded isomers. Eur J Biochem 1996;239:214-19.
    • (1996) Eur J Biochem , vol.239 , pp. 214-219
    • Djordjevic, J.T.1    Bieri, S.2    Smith, R.3    Kroon, P.A.4
  • 5
    • 0023720346 scopus 로고
    • Transport deficient mutations in the low density lipoprotein receptor alterations in the cysteine rich and cysteine poor regions of the protein block intracellular-transport
    • Esser V, Russell DW. Transport deficient mutations in the low density lipoprotein receptor alterations in the cysteine rich and cysteine poor regions of the protein block intracellular-transport. J Biol Chem 1988;263:13276-81.
    • (1988) J Biol Chem , vol.263 , pp. 13276-13281
    • Esser, V.1    Russell, D.W.2
  • 6
    • 0031042093 scopus 로고    scopus 로고
    • Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants
    • Nissen H, Hansen AB, Guldberg P, et al. Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants. Atherosclerosis 1997;128:75-83.
    • (1997) Atherosclerosis , vol.128 , pp. 75-83
    • Nissen, H.1    Hansen, A.B.2    Guldberg, P.3
  • 7
    • 0027323004 scopus 로고
    • Mutations of low density lipoprotein receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia
    • Moorjani S, Roy M, Torres A, et al. Mutations of low density lipoprotein receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolemia. Lancet 1993;341:1303-6.
    • (1993) Lancet , vol.341 , pp. 1303-1306
    • Moorjani, S.1    Roy, M.2    Torres, A.3
  • 8
    • 0028172756 scopus 로고
    • Effect on plasmalipid levels of different classes of mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia
    • Gudnason V, Day INM, Humphries SE. Effect on plasmalipid levels of different classes of mutations in the low density lipoprotein receptor gene in patients with familial hypercholesterolemia. Arterioscler Thromb 1994;14:1717-22.
    • (1994) Arterioscler Thromb , vol.14 , pp. 1717-1722
    • Gudnason, V.1    Day, I.N.M.2    Humphries, S.E.3
  • 9
    • 0031060623 scopus 로고    scopus 로고
    • Association between common alleles of the low density lipoprotein receptor gene region and interindividual variation in plasma lipid and apolipoprotein levels in a population-based sample from Rochester, Minnesota
    • Haviland MB, Ferrell RE, Sing CF. Association between common alleles of the low density lipoprotein receptor gene region and interindividual variation in plasma lipid and apolipoprotein levels in a population-based sample from Rochester, Minnesota. Hum Genet 1997;99:108-14.
    • (1997) Hum Genet , vol.99 , pp. 108-114
    • Haviland, M.B.1    Ferrell, R.E.2    Sing, C.F.3
  • 10
    • 0027280018 scopus 로고
    • Intrafamilial variability in the clinical expression of familial hypercholesterolemia-importance of risk factor determination for genetic counseling
    • Kotze MJ, Davis HJ, Bissbort S, et al. Intrafamilial variability in the clinical expression of familial hypercholesterolemia-importance of risk factor determination for genetic counseling. Clin Genet 1993;43:295-9.
    • (1993) Clin Genet , vol.43 , pp. 295-299
    • Kotze, M.J.1    Davis, H.J.2    Bissbort, S.3
  • 11
    • 0026031715 scopus 로고
    • Genetic and environmental-factors affecting the incidence of coronary-artery disease in heterozygous familial hypercholesterolemia
    • Hill JS, Hayden MR, Frohlich J, Pritchard PH. Genetic and environmental-factors affecting the incidence of coronary-artery disease in heterozygous familial hypercholesterolemia. Arterioscler Thromb 1991;11:290-7.
    • (1991) Arterioscler Thromb , vol.11 , pp. 290-297
    • Hill, J.S.1    Hayden, M.R.2    Frohlich, J.3    Pritchard, P.H.4
  • 12
    • 0027528475 scopus 로고
    • Apolipoprotein E phenotypes in familial hypercholesterolemia - Importance for expression of disease and response to therapy
    • Berglund L, Wiklund O, Eggertsen G, et al. Apolipoprotein E phenotypes in familial hypercholesterolemia - importance for expression of disease and response to therapy. J Intern Med 1993;233:173-8.
    • (1993) J Intern Med , vol.233 , pp. 173-178
    • Berglund, L.1    Wiklund, O.2    Eggertsen, G.3
  • 13
    • 0029670804 scopus 로고    scopus 로고
    • The trp(23)-stop and trp(66)-gly mutations in the LDL receptor gene - Common causes of familial hypercholesterolemia in Denmark
    • Jensen HK, Jensen LG, Hansen PS, Faergeman O, Gregersen N. The trp(23)-stop and trp(66)-gly mutations in the LDL receptor gene - common causes of familial hypercholesterolemia in Denmark. Atherosclerosis 1996;120:57-65.
    • (1996) Atherosclerosis , vol.120 , pp. 57-65
    • Jensen, H.K.1    Jensen, L.G.2    Hansen, P.S.3    Faergeman, O.4    Gregersen, N.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.