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Volumn 10, Issue 6, 2016, Pages 1297-1302

Familial defective apolipoprotein B-100: A review

Author keywords

APOB; Familial defective apolipoprotein B 100; Familial hypercholesterolemia; FDB; FH; Hyperlipidemia; Lipid metabolism; Population genetics; R3500Q; R3500 W

Indexed keywords

APOLIPOPROTEIN B100; LOW DENSITY LIPOPROTEIN CHOLESTEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

EID: 85002141914     PISSN: 19332874     EISSN: 18764789     Source Type: Journal    
DOI: 10.1016/j.jacl.2016.09.009     Document Type: Review
Times cited : (65)

References (69)
  • 1
    • 0022981186 scopus 로고
    • In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia
    • 1 Vega, G.L., Grundy, S.M., In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. J Clin Invest 78 (1986), 1410–1414.
    • (1986) J Clin Invest , vol.78 , pp. 1410-1414
    • Vega, G.L.1    Grundy, S.M.2
  • 2
    • 0011723065 scopus 로고
    • Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding
    • 2 Innerarity, T.L., Weisgraber, K.H., Arnold, K.S., et al. Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. Proc Natl Acad Sci U S A 84 (1987), 6919–6923.
    • (1987) Proc Natl Acad Sci U S A , vol.84 , pp. 6919-6923
    • Innerarity, T.L.1    Weisgraber, K.H.2    Arnold, K.S.3
  • 3
    • 0024558892 scopus 로고
    • Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100
    • 3 Soria, L., Ludwig, E., Clarke, H., et al. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. Proc Natl Acad Sci U S A 86 (1989), 587–591.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 587-591
    • Soria, L.1    Ludwig, E.2    Clarke, H.3
  • 4
    • 0025102741 scopus 로고
    • Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia
    • 4 Innerarity, T.L., Mahley, R.W., Weisgraber, K.H., et al. Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res 31 (1990), 1337–1349.
    • (1990) J Lipid Res , vol.31 , pp. 1337-1349
    • Innerarity, T.L.1    Mahley, R.W.2    Weisgraber, K.H.3
  • 5
    • 0029090626 scopus 로고
    • Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia
    • 5 Gaffney, D., Reid, J.M., Cameron, I.M., et al. Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia. Arterioscler Thromb Vasc Biol 15 (1995), 1025–1029.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1025-1029
    • Gaffney, D.1    Reid, J.M.2    Cameron, I.M.3
  • 6
    • 28844468394 scopus 로고    scopus 로고
    • Update of the molecular basis of familial hypercholesterolemia in The Netherlands
    • 6 Fouchier, S.W., Kastelein, J.J., Defesche, J.C., Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat 26 (2005), 550–556.
    • (2005) Hum Mutat , vol.26 , pp. 550-556
    • Fouchier, S.W.1    Kastelein, J.J.2    Defesche, J.C.3
  • 7
    • 0034292870 scopus 로고    scopus 로고
    • R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia
    • 7 Rabes, J.P., Varret, M., Devillers, M., et al. R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. Arterioscler Thromb Vasc Biol 20 (2000), E76–E82.
    • (2000) Arterioscler Thromb Vasc Biol , vol.20 , pp. E76-E82
    • Rabes, J.P.1    Varret, M.2    Devillers, M.3
  • 8
    • 0035937832 scopus 로고    scopus 로고
    • The molecular mechanism for the genetic disorder familial defective apolipoprotein B100
    • 8 Boren, J., Ekstrom, U., Agren, B., et al. The molecular mechanism for the genetic disorder familial defective apolipoprotein B100. J Biol Chem 276 (2001), 9214–9218.
    • (2001) J Biol Chem , vol.276 , pp. 9214-9218
    • Boren, J.1    Ekstrom, U.2    Agren, B.3
  • 9
    • 0027331369 scopus 로고
    • Accumulation of “small dense” low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor
    • 9 März, W., Baumstark, M.W., Scharnagl, H., et al. Accumulation of “small dense” low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor. J Clin Invest 92 (1993), 2922–2933.
    • (1993) J Clin Invest , vol.92 , pp. 2922-2933
    • März, W.1    Baumstark, M.W.2    Scharnagl, H.3
  • 10
    • 0028998974 scopus 로고
    • The affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100
    • 10 Gallagher, J.J., Myant, N.B., The affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100. Eur Heart J 115 (1995), 263–272.
    • (1995) Eur Heart J , vol.115 , pp. 263-272
    • Gallagher, J.J.1    Myant, N.B.2
  • 11
    • 0031026680 scopus 로고    scopus 로고
    • Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs
    • 11 Schaefer, J.R., Scharnagl, H., Baumstark, M.W., et al. Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs. Arterioscler Thromb Vasc Biol 17 (1997), 348–353.
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 348-353
    • Schaefer, J.R.1    Scharnagl, H.2    Baumstark, M.W.3
  • 12
    • 84949524038 scopus 로고    scopus 로고
    • Structural analysis of APOB variants, p. (Arg3527Gln), p. (Arg1164Thr) and p. (Gln4494del), causing familial hypercholesterolaemia provides novel insights into variant pathogenicity
    • 12 Fernandez-Higuero, J.A., Etxebarria, A., Benito-Vicente, A., et al. Structural analysis of APOB variants, p. (Arg3527Gln), p. (Arg1164Thr) and p. (Gln4494del), causing familial hypercholesterolaemia provides novel insights into variant pathogenicity. Sci Rep, 5, 2015, 18184.
    • (2015) Sci Rep , vol.5 , pp. 18184
    • Fernandez-Higuero, J.A.1    Etxebarria, A.2    Benito-Vicente, A.3
  • 13
    • 0026099333 scopus 로고
    • Apolipoprotein B gene mutations in Austrian subjects with heart disease and their kindred
    • 13 Friedl, W., Ludwig, E.H., Balestra, M.E., et al. Apolipoprotein B gene mutations in Austrian subjects with heart disease and their kindred. Arterioscler Thromb 11 (1991), 371–378.
    • (1991) Arterioscler Thromb , vol.11 , pp. 371-378
    • Friedl, W.1    Ludwig, E.H.2    Balestra, M.E.3
  • 14
    • 0028069822 scopus 로고
    • Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects
    • 14 Arnold, K.S., Balestra, M.E., Krauss, R.M., et al. Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects. J Lipid Res 35 (1994), 1469–1476.
    • (1994) J Lipid Res , vol.35 , pp. 1469-1476
    • Arnold, K.S.1    Balestra, M.E.2    Krauss, R.M.3
  • 15
    • 0027381895 scopus 로고
    • Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations
    • 15 Miserez, A.R., Schuster, H., Chiodetti, N., et al. Polymorphic haplotypes and recombination rates at the LDL receptor gene locus in subjects with and without familial hypercholesterolemia who are from different populations. Am J Hum Genet 52 (1993), 808–826.
    • (1993) Am J Hum Genet , vol.52 , pp. 808-826
    • Miserez, A.R.1    Schuster, H.2    Chiodetti, N.3
  • 16
    • 8844228187 scopus 로고    scopus 로고
    • Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia
    • 16 Muller, P.Y., Miserez, A.R., Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Atheroscler Suppl 5 (2004), 1–5.
    • (2004) Atheroscler Suppl , vol.5 , pp. 1-5
    • Muller, P.Y.1    Miserez, A.R.2
  • 18
    • 84893756641 scopus 로고    scopus 로고
    • Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks
    • 18 Peloso, G.M., Auer, P.L., Bis, J.C., et al. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet 94 (2014), 223–232.
    • (2014) Am J Hum Genet , vol.94 , pp. 223-232
    • Peloso, G.M.1    Auer, P.L.2    Bis, J.C.3
  • 19
    • 0027314718 scopus 로고
    • A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder
    • 19 Bersot, T.P., Russell, S.J., Thatcher, S.R., et al. A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder. J Lipid Res 34 (1993), 1149–1154.
    • (1993) J Lipid Res , vol.34 , pp. 1149-1154
    • Bersot, T.P.1    Russell, S.J.2    Thatcher, S.R.3
  • 20
    • 78149383007 scopus 로고    scopus 로고
    • Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the Old Order Amish
    • 20 Shen, H., Damcott, C.M., Rampersaud, E., et al. Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the Old Order Amish. Arch Intern Med 170 (2010), 1850–1855.
    • (2010) Arch Intern Med , vol.170 , pp. 1850-1855
    • Shen, H.1    Damcott, C.M.2    Rampersaud, E.3
  • 21
    • 84966551189 scopus 로고    scopus 로고
    • Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217
    • 21 Benn, M., Watts, G.F., Tybjaerg-Hansen, A., et al. Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. Eur Heart J 37 (2016), 1384–1394.
    • (2016) Eur Heart J , vol.37 , pp. 1384-1394
    • Benn, M.1    Watts, G.F.2    Tybjaerg-Hansen, A.3
  • 22
    • 0028209003 scopus 로고
    • High prevalence of familial defective apolipoprotein B-100 in Switzerland
    • 22 Miserez, A.R., Laager, R., Chiodetti, N., et al. High prevalence of familial defective apolipoprotein B-100 in Switzerland. J Lipid Res 35 (1994), 574–583.
    • (1994) J Lipid Res , vol.35 , pp. 574-583
    • Miserez, A.R.1    Laager, R.2    Chiodetti, N.3
  • 23
    • 0033979465 scopus 로고    scopus 로고
    • Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples?
    • 23 Miserez, A.R., Muller, P.Y., Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples?. Atherosclerosis 148 (2000), 433–436.
    • (2000) Atherosclerosis , vol.148 , pp. 433-436
    • Miserez, A.R.1    Muller, P.Y.2
  • 24
    • 0027380997 scopus 로고
    • Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a “founder effect”
    • 24 Davignon, J., Roy, M., Familial hypercholesterolemia in French-Canadians: taking advantage of the presence of a “founder effect”. Am J Cardiol 72 (1993), 6D–10D.
    • (1993) Am J Cardiol , vol.72 , pp. 6D-10D
    • Davignon, J.1    Roy, M.2
  • 25
    • 0029811657 scopus 로고    scopus 로고
    • Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations
    • 25 Steyn, K., Goldberg, Y.P., Kotze, M.J., et al. Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum Genet 98 (1996), 479–484.
    • (1996) Hum Genet , vol.98 , pp. 479-484
    • Steyn, K.1    Goldberg, Y.P.2    Kotze, M.J.3
  • 26
    • 0023140956 scopus 로고
    • The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum
    • 26 Lehrman, M.A., Schneider, W.J., Brown, M.S., et al. The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum. J Biol Chem 262 (1987), 401–410.
    • (1987) J Biol Chem , vol.262 , pp. 401-410
    • Lehrman, M.A.1    Schneider, W.J.2    Brown, M.S.3
  • 27
    • 85002339334 scopus 로고    scopus 로고
    • Exome Aggregation Consortium (ExAC), Cambridge, MA. Available at: Accessed July 28
    • 27 Exome Aggregation Consortium (ExAC), Cambridge, MA. Available at: http://exac.broadinstitute.org. Accessed July 28, 2016.
    • (2016)
  • 28
    • 84962583682 scopus 로고    scopus 로고
    • Genetic diagnosis of familial hypercholesterolemia in Han Chinese
    • 28 Chiou, K.R., Charng, M.J., Genetic diagnosis of familial hypercholesterolemia in Han Chinese. J Clin Lipidol 10 (2016), 490–496.
    • (2016) J Clin Lipidol , vol.10 , pp. 490-496
    • Chiou, K.R.1    Charng, M.J.2
  • 29
    • 85002500151 scopus 로고    scopus 로고
    • Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. Available at: Accessed July 28
    • 29 Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. Available at: http://evs.gs.washington.edu/EVS/. Accessed July 28, 2016.
    • (2016)
  • 30
    • 0029094386 scopus 로고
    • Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia
    • 30 Miserez, A.R., Keller, U., Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 15 (1995), 1719–1729.
    • (1995) Arterioscler Thromb Vasc Biol , vol.15 , pp. 1719-1729
    • Miserez, A.R.1    Keller, U.2
  • 31
    • 0030948955 scopus 로고    scopus 로고
    • Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia
    • 31 Pimstone, S.N., Defesche, J.C., Clee, S.M., et al. Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia. Arterioscler Thromb Vasc Biol 17 (1997), 826–833.
    • (1997) Arterioscler Thromb Vasc Biol , vol.17 , pp. 826-833
    • Pimstone, S.N.1    Defesche, J.C.2    Clee, S.M.3
  • 32
    • 78049420763 scopus 로고    scopus 로고
    • Molecular spectrum of autosomal dominant hypercholesterolemia in France
    • 32 Marduel, M., Carrie, A., Sassolas, A., et al. Molecular spectrum of autosomal dominant hypercholesterolemia in France. Hum Mutat 31 (2010), E1811–E1824.
    • (2010) Hum Mutat , vol.31 , pp. E1811-E1824
    • Marduel, M.1    Carrie, A.2    Sassolas, A.3
  • 33
    • 38949092098 scopus 로고    scopus 로고
    • Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population
    • 33 Ejarque, I., Real, J.T., Martinez-Hervas, S., et al. Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population. Transl Res 151 (2008), 162–167.
    • (2008) Transl Res , vol.151 , pp. 162-167
    • Ejarque, I.1    Real, J.T.2    Martinez-Hervas, S.3
  • 34
    • 0032574920 scopus 로고    scopus 로고
    • Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease
    • 34 Tybjaerg-Hansen, A., Steffensen, R., Meinertz, H., et al. Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. N Engl J Med 338 (1998), 1577–1584.
    • (1998) N Engl J Med , vol.338 , pp. 1577-1584
    • Tybjaerg-Hansen, A.1    Steffensen, R.2    Meinertz, H.3
  • 35
    • 0042827219 scopus 로고    scopus 로고
    • [Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote]
    • 35 Ejarque, I., Civer, M., Francisco Ascaso, J., et al. [Identification and characterization of the first Spanish familial ligand-defective apolipoprotein B homozygote]. Med Clin (Barc) 116 (2001), 138–141.
    • (2001) Med Clin (Barc) , vol.116 , pp. 138-141
    • Ejarque, I.1    Civer, M.2    Francisco Ascaso, J.3
  • 36
    • 0034094175 scopus 로고    scopus 로고
    • Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients
    • 36 Ceska, R., Vrablik, M., Horinek, A., Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients. Physiol Res 49:Suppl 1 (2000), S125–S130.
    • (2000) Physiol Res , vol.49 , pp. S125-S130
    • Ceska, R.1    Vrablik, M.2    Horinek, A.3
  • 37
    • 0026474434 scopus 로고
    • Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient
    • 37 März, W., Ruzicka, C., Pohl, T., et al. Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient. Lancet, 340, 1992, 1362.
    • (1992) Lancet , vol.340 , pp. 1362
    • März, W.1    Ruzicka, C.2    Pohl, T.3
  • 38
    • 0037298523 scopus 로고    scopus 로고
    • Apolipoprotein B-100 gene mutations and cholesterol control in German patients
    • 38 Loggen, U., Boden, A., Baron, H., et al. Apolipoprotein B-100 gene mutations and cholesterol control in German patients. Eur Heart J 166 (2003), 411–412.
    • (2003) Eur Heart J , vol.166 , pp. 411-412
    • Loggen, U.1    Boden, A.2    Baron, H.3
  • 39
    • 19144367177 scopus 로고    scopus 로고
    • Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100
    • 39 Benlian, P., de Gennes, J.L., Dairou, F., et al. Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100. Hum Mutat 7 (1996), 340–345.
    • (1996) Hum Mutat , vol.7 , pp. 340-345
    • Benlian, P.1    de Gennes, J.L.2    Dairou, F.3
  • 40
    • 0027230692 scopus 로고
    • Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100
    • 40 Rubinsztein, D.C., Raal, F.J., Seftel, H.C., et al. Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100. Arterioscler Thromb 13 (1993), 1076–1081.
    • (1993) Arterioscler Thromb , vol.13 , pp. 1076-1081
    • Rubinsztein, D.C.1    Raal, F.J.2    Seftel, H.C.3
  • 41
    • 0034907080 scopus 로고    scopus 로고
    • A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect
    • 41 deCampo, A., Schallmoser, K., Schmidt, H., et al. A novel splice-site mutation in intron 7 causes more severe hypercholesterolemia than a combined FH-FDB defect. Eur Heart J 157 (2001), 524–525.
    • (2001) Eur Heart J , vol.157 , pp. 524-525
    • deCampo, A.1    Schallmoser, K.2    Schmidt, H.3
  • 42
    • 33644796185 scopus 로고    scopus 로고
    • Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia
    • 42 Brusgaard, K., Jordan, P., Hansen, H., et al. Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia. Clin Genet 69 (2006), 277–283.
    • (2006) Clin Genet , vol.69 , pp. 277-283
    • Brusgaard, K.1    Jordan, P.2    Hansen, H.3
  • 43
    • 17044427538 scopus 로고    scopus 로고
    • The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population
    • 43 Damgaard, D., Larsen, M.L., Nissen, P.H., et al. The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population. Eur Heart J 180 (2005), 155–160.
    • (2005) Eur Heart J , vol.180 , pp. 155-160
    • Damgaard, D.1    Larsen, M.L.2    Nissen, P.H.3
  • 44
    • 76749083875 scopus 로고    scopus 로고
    • Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations
    • 44 Chmara, M., Wasag, B., Zuk, M., et al. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. J Appl Genet 51 (2010), 95–106.
    • (2010) J Appl Genet , vol.51 , pp. 95-106
    • Chmara, M.1    Wasag, B.2    Zuk, M.3
  • 45
    • 33947651099 scopus 로고    scopus 로고
    • Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations
    • 45 Widhalm, K., Dirisamer, A., Lindemayr, A., et al. Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations. J Inherit Metab Dis 30 (2007), 239–247.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 239-247
    • Widhalm, K.1    Dirisamer, A.2    Lindemayr, A.3
  • 46
    • 0034572361 scopus 로고    scopus 로고
    • High prevalence of FDB3500 mutation in the Swiss population
    • 46 Fisher, E., Gross, W., Marz, W., High prevalence of FDB3500 mutation in the Swiss population. Eur Heart J 153 (2000), 519–521.
    • (2000) Eur Heart J , vol.153 , pp. 519-521
    • Fisher, E.1    Gross, W.2    Marz, W.3
  • 47
    • 84864761102 scopus 로고    scopus 로고
    • The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations
    • 47 Tichy, L., Freiberger, T., Zapletalova, P., et al. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. Eur Heart J 223 (2012), 401–408.
    • (2012) Eur Heart J , vol.223 , pp. 401-408
    • Tichy, L.1    Freiberger, T.2    Zapletalova, P.3
  • 48
    • 84866564804 scopus 로고    scopus 로고
    • Genetic analysis of familial hypercholesterolaemia in Western Australia
    • 48 Hooper, A.J., Nguyen, L.T., Burnett, J.R., et al. Genetic analysis of familial hypercholesterolaemia in Western Australia. Eur Heart J 224 (2012), 430–434.
    • (2012) Eur Heart J , vol.224 , pp. 430-434
    • Hooper, A.J.1    Nguyen, L.T.2    Burnett, J.R.3
  • 49
    • 33344474328 scopus 로고    scopus 로고
    • Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing
    • 49 Humphries, S.E., Cranston, T., Allen, M., et al. Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing. J Mol Med (Berl) 84 (2006), 203–214.
    • (2006) J Mol Med (Berl) , vol.84 , pp. 203-214
    • Humphries, S.E.1    Cranston, T.2    Allen, M.3
  • 50
    • 84941107600 scopus 로고    scopus 로고
    • Universal screening for familial hypercholesterolemia in children
    • 50 Klancar, G., Groselj, U., Kovac, J., et al. Universal screening for familial hypercholesterolemia in children. J Am Coll Cardiol 66 (2015), 1250–1257.
    • (2015) J Am Coll Cardiol , vol.66 , pp. 1250-1257
    • Klancar, G.1    Groselj, U.2    Kovac, J.3
  • 51
    • 84958212497 scopus 로고    scopus 로고
    • The genetic spectrum of familial hypercholesterolemia in south-eastern Poland
    • 51 Sharifi, M., Walus-Miarka, M., Idzior-Walus, B., et al. The genetic spectrum of familial hypercholesterolemia in south-eastern Poland. Metabolism 65 (2016), 48–53.
    • (2016) Metabolism , vol.65 , pp. 48-53
    • Sharifi, M.1    Walus-Miarka, M.2    Idzior-Walus, B.3
  • 52
    • 79951968300 scopus 로고    scopus 로고
    • Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
    • 52 Leren, T.P., Berge, K.E., Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated. PLoS One, 6, 2011, e16721.
    • (2011) PLoS One , vol.6 , pp. e16721
    • Leren, T.P.1    Berge, K.E.2
  • 53
    • 0035189334 scopus 로고    scopus 로고
    • Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary
    • 53 Kalina, A., Csaszar, A., Czeizel, A.E., et al. Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary. Eur Heart J 154 (2001), 247–251.
    • (2001) Eur Heart J , vol.154 , pp. 247-251
    • Kalina, A.1    Csaszar, A.2    Czeizel, A.E.3
  • 54
    • 0034880873 scopus 로고    scopus 로고
    • High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects
    • 54 Horvath, A., Savov, A., Kirov, S., et al. High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects. J Med Genet 38 (2001), 536–540.
    • (2001) J Med Genet , vol.38 , pp. 536-540
    • Horvath, A.1    Savov, A.2    Kirov, S.3
  • 55
    • 34848928090 scopus 로고    scopus 로고
    • Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?
    • 55 Gasparovic, J., Basistova, Z., Fabryova, L., et al. Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?. Eur Heart J 194 (2007), e95–e107.
    • (2007) Eur Heart J , vol.194 , pp. e95-e107
    • Gasparovic, J.1    Basistova, Z.2    Fabryova, L.3
  • 56
    • 0032997393 scopus 로고    scopus 로고
    • Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from southern Italy
    • 56 Seripa, D., Gravina, C., Volpe, R., et al. Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from southern Italy. J Inherit Metab Dis 22 (1999), 670–671.
    • (1999) J Inherit Metab Dis , vol.22 , pp. 670-671
    • Seripa, D.1    Gravina, C.2    Volpe, R.3
  • 57
    • 84857035544 scopus 로고    scopus 로고
    • Molecular characterization of familial hypercholesterolemia in Spain
    • 57 Palacios, L., Grandoso, L., Cuevas, N., et al. Molecular characterization of familial hypercholesterolemia in Spain. Eur Heart J 221 (2012), 137–142.
    • (2012) Eur Heart J , vol.221 , pp. 137-142
    • Palacios, L.1    Grandoso, L.2    Cuevas, N.3
  • 58
    • 84909953128 scopus 로고    scopus 로고
    • Familial hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum
    • 58 Mollaki, V., Progias, P., Drogari, E., Familial hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum. Eur Heart J 237 (2014), 798–804.
    • (2014) Eur Heart J , vol.237 , pp. 798-804
    • Mollaki, V.1    Progias, P.2    Drogari, E.3
  • 59
    • 0347287029 scopus 로고    scopus 로고
    • Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population
    • 59 Real, J.T., Chaves, F.J., Ejarque, I., et al. Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population. Eur J Hum Genet 11 (2003), 959–965.
    • (2003) Eur J Hum Genet , vol.11 , pp. 959-965
    • Real, J.T.1    Chaves, F.J.2    Ejarque, I.3
  • 60
    • 84875052628 scopus 로고    scopus 로고
    • Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
    • 60 Bertolini, S., Pisciotta, L., Rabacchi, C., et al. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. Eur Heart J 227 (2013), 342–348.
    • (2013) Eur Heart J , vol.227 , pp. 342-348
    • Bertolini, S.1    Pisciotta, L.2    Rabacchi, C.3
  • 61
    • 0025303553 scopus 로고
    • Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol
    • 61 Hamalainen, T., Palotie, A., Aalto-Setala, K., et al. Absence of familial defective apolipoprotein B-100 in Finnish patients with elevated serum cholesterol. Eur Heart J 82 (1990), 177–183.
    • (1990) Eur Heart J , vol.82 , pp. 177-183
    • Hamalainen, T.1    Palotie, A.2    Aalto-Setala, K.3
  • 62
    • 84858157188 scopus 로고    scopus 로고
    • Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China
    • 62 Chiou, K.R., Charng, M.J., Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China. Gene 498 (2012), 100–106.
    • (2012) Gene , vol.498 , pp. 100-106
    • Chiou, K.R.1    Charng, M.J.2
  • 63
    • 0031873319 scopus 로고    scopus 로고
    • Identification and haplotype analysis of apolipoprotein B-100 Arg3500–>Trp mutation in hyperlipidemic Chinese
    • 63 Tai, D.Y., Pan, J.P., Lee-Chen, G.J., Identification and haplotype analysis of apolipoprotein B-100 Arg3500–>Trp mutation in hyperlipidemic Chinese. Clin Chem 44 (1998), 1659–1665.
    • (1998) Clin Chem , vol.44 , pp. 1659-1665
    • Tai, D.Y.1    Pan, J.P.2    Lee-Chen, G.J.3
  • 64
    • 0034948359 scopus 로고    scopus 로고
    • Further characterization of apolipoprotein B genetic variations in Taiwanese
    • 64 Wu, J.H., Lee, Y.T., Hsu, H.C., et al. Further characterization of apolipoprotein B genetic variations in Taiwanese. Hum Biol 73 (2001), 451–460.
    • (2001) Hum Biol , vol.73 , pp. 451-460
    • Wu, J.H.1    Lee, Y.T.2    Hsu, H.C.3
  • 65
    • 36148944337 scopus 로고    scopus 로고
    • LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population
    • 65 Yang, K.C., Su, Y.N., Shew, J.Y., et al. LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population. J Formos Med Assoc 106 (2007), 799–807.
    • (2007) J Formos Med Assoc , vol.106 , pp. 799-807
    • Yang, K.C.1    Su, Y.N.2    Shew, J.Y.3
  • 66
    • 84055213533 scopus 로고    scopus 로고
    • Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report
    • 66 Expert panel on integrated guidelines for cardiovascular health and risk reduction in children and adolescents: summary report. Pediatrics 128 (2011), S213–S256.
    • (2011) Pediatrics , vol.128 , pp. S213-S256
  • 67
    • 84899656061 scopus 로고    scopus 로고
    • Small dense LDL cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk in Communities (ARIC) study
    • 67 Hoogeveen, R.C., Gaubatz, J.W., Sun, W., et al. Small dense LDL cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk in Communities (ARIC) study. Arterioscler Thromb Vasc Biol 34 (2014), 1069–1077.
    • (2014) Arterioscler Thromb Vasc Biol , vol.34 , pp. 1069-1077
    • Hoogeveen, R.C.1    Gaubatz, J.W.2    Sun, W.3
  • 68
    • 84890461947 scopus 로고    scopus 로고
    • Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society
    • 68 Nordestgaard, B., Chapman, M., Humphries, S., et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Consensus Statement of the European Atherosclerosis Society. Eur Heart J 34 (2013), 3478–3490a.
    • (2013) Eur Heart J , vol.34 , pp. 3478-3490a
    • Nordestgaard, B.1    Chapman, M.2    Humphries, S.3
  • 69
    • 79956267846 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia
    • 69 Goldberg, A.C., Hopkins, P.N., Toth, P.P., et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 5 (2011), S1–S8.
    • (2011) J Clin Lipidol , vol.5 , pp. S1-S8
    • Goldberg, A.C.1    Hopkins, P.N.2    Toth, P.P.3


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