메뉴 건너뛰기




Volumn 29, Issue 8, 2013, Pages 934-939

Erratum: Western Database of Lipid Variants (WDLV): A Catalogue of Genetic Variants in Monogenic Dyslipidemias (Canadian Journal of Cardiology (2013) 29(8) (934–939) (S0828282X13000299) (10.1016/j.cjca.2013.01.008));Western database of lipid variants (WDLV): A catalogue of genetic variants in monogenic dyslipidemias

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

EID: 84881022200     PISSN: 0828282X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cjca.2016.05.004     Document Type: Erratum
Times cited : (21)

References (29)
  • 1
    • 0037903275 scopus 로고    scopus 로고
    • Human Gene Mutation Database (HGMD): 2003 update
    • Stenson P.D., Ball E.V., Mort M., et al. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat 2003, 21:577-581.
    • (2003) Hum Mutat , vol.21 , pp. 577-581
    • Stenson, P.D.1    Ball, E.V.2    Mort, M.3
  • 2
    • 0035173378 scopus 로고    scopus 로고
    • DbSNP: the NCBI database of genetic variation
    • Sherry S.T., Ward M.H., Kholodov M., et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001, 29:308-311.
    • (2001) Nucleic Acids Res , vol.29 , pp. 308-311
    • Sherry, S.T.1    Ward, M.H.2    Kholodov, M.3
  • 3
    • 22844452823 scopus 로고    scopus 로고
    • LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach
    • Fokkema I.F., den Dunnen J.T., Taschner P.E. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat 2005, 26:63-68.
    • (2005) Hum Mutat , vol.26 , pp. 63-68
    • Fokkema, I.F.1    den Dunnen, J.T.2    Taschner, P.E.3
  • 4
    • 84871449471 scopus 로고    scopus 로고
    • Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease
    • Farhan S.M., Hegele R.A. Genetics 101 for cardiologists: rare genetic variants and monogenic cardiovascular disease. Can J Cardiol 2013, 29:18-22.
    • (2013) Can J Cardiol , vol.29 , pp. 18-22
    • Farhan, S.M.1    Hegele, R.A.2
  • 5
    • 84871414655 scopus 로고    scopus 로고
    • Genetics 100 for cardiologists: basics of genome-wide association studies
    • Dubé J.B., Hegele R.A. Genetics 100 for cardiologists: basics of genome-wide association studies. Can J Cardiol 2013, 29:10-17.
    • (2013) Can J Cardiol , vol.29 , pp. 10-17
    • Dubé, J.B.1    Hegele, R.A.2
  • 6
    • 58549109632 scopus 로고    scopus 로고
    • Plasma lipoproteins: genetic influences and clinical implications
    • Hegele R.A. Plasma lipoproteins: genetic influences and clinical implications. Nat Rev Genet 2009, 10:109-121.
    • (2009) Nat Rev Genet , vol.10 , pp. 109-121
    • Hegele, R.A.1
  • 7
    • 79958846829 scopus 로고    scopus 로고
    • Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution
    • Liyanage K.E., Burnett J.R., Hooper A.J., van Bockxmeer F.M. Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution. Crit Rev Clin Lab Sci 2011, 48:1-18.
    • (2011) Crit Rev Clin Lab Sci , vol.48 , pp. 1-18
    • Liyanage, K.E.1    Burnett, J.R.2    Hooper, A.J.3    van Bockxmeer, F.M.4
  • 9
    • 84864127581 scopus 로고    scopus 로고
    • Clinical utility gene card for familial hypobetalipoproteinaemia (APOB)
    • Burnett J.R., Bell D.A., Hooper A.J., Hegele R.A. Clinical utility gene card for familial hypobetalipoproteinaemia (APOB). Eur J Hum Genet 2012, 20:8.
    • (2012) Eur J Hum Genet , vol.20 , pp. 8
    • Burnett, J.R.1    Bell, D.A.2    Hooper, A.J.3    Hegele, R.A.4
  • 10
    • 78651364798 scopus 로고    scopus 로고
    • Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (chylomicron retention disease)
    • Georges A., Bonneau J., Bonnefont-Rousselot D., et al. Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (chylomicron retention disease). Orphanet J Rare Dis 2011, 6:16.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 16
    • Georges, A.1    Bonneau, J.2    Bonnefont-Rousselot, D.3
  • 11
    • 33645103550 scopus 로고    scopus 로고
    • Sequence variations in PCSK9, low LDL, and protection against coronary heart disease
    • Cohen J.C., Boerwinkle E., Mosley T.H., Hobbs H.H. Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. NEngl J Med 2006, 354:1264-1272.
    • (2006) NEngl J Med , vol.354 , pp. 1264-1272
    • Cohen, J.C.1    Boerwinkle, E.2    Mosley, T.H.3    Hobbs, H.H.4
  • 13
    • 0027162816 scopus 로고
    • Hepatic lipase deficiency: clinical, biochemical, and molecular genetic characteristics
    • Hegele R.A., Little J.A., Vezina C., et al. Hepatic lipase deficiency: clinical, biochemical, and molecular genetic characteristics. Arterioscler Thromb 1993, 13:720-728.
    • (1993) Arterioscler Thromb , vol.13 , pp. 720-728
    • Hegele, R.A.1    Little, J.A.2    Vezina, C.3
  • 14
    • 78651352098 scopus 로고    scopus 로고
    • Genetic variant of the scavenger receptor BI in humans
    • Vergeer M., Korporaal S.J., Franssen R., et al. Genetic variant of the scavenger receptor BI in humans. NEngl J Med 2011, 364:136-145.
    • (2011) NEngl J Med , vol.364 , pp. 136-145
    • Vergeer, M.1    Korporaal, S.J.2    Franssen, R.3
  • 15
    • 65249186429 scopus 로고    scopus 로고
    • Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans
    • Edmondson A.C., Brown R.J., Kathiresan S., et al. Loss-of-function variants in endothelial lipase are a cause of elevated HDL cholesterol in humans. JClin Invest 2009, 119:1042-1050.
    • (2009) JClin Invest , vol.119 , pp. 1042-1050
    • Edmondson, A.C.1    Brown, R.J.2    Kathiresan, S.3
  • 16
    • 0033816960 scopus 로고    scopus 로고
    • Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations
    • Mott S., Yu L., Marcil M., Boucher B., Rondeau C., Genest J. Decreased cellular cholesterol efflux is a common cause of familial hypoalphalipoproteinemia: role of the ABCA1 gene mutations. Atherosclerosis 2000, 152:457-468.
    • (2000) Atherosclerosis , vol.152 , pp. 457-468
    • Mott, S.1    Yu, L.2    Marcil, M.3    Boucher, B.4    Rondeau, C.5    Genest, J.6
  • 17
    • 0036015983 scopus 로고    scopus 로고
    • Analysis of apolipoprotein A-I, lecithin: cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia
    • Recalde D., Cenarro A., Garcia-Otin A.-L., Gomez-Coronado D., Civeira F., Pocovi M. Analysis of apolipoprotein A-I, lecithin: cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia. Atherosclerosis 2002, 163:49-58.
    • (2002) Atherosclerosis , vol.163 , pp. 49-58
    • Recalde, D.1    Cenarro, A.2    Garcia-Otin, A.-L.3    Gomez-Coronado, D.4    Civeira, F.5    Pocovi, M.6
  • 19
    • 79960644031 scopus 로고    scopus 로고
    • Genetic bases of hypertriglyceridemic phenotypes
    • Johansen C.T., Hegele R.A. Genetic bases of hypertriglyceridemic phenotypes. Curr Opin Lipidol 2011, 4:247-253.
    • (2011) Curr Opin Lipidol , vol.4 , pp. 247-253
    • Johansen, C.T.1    Hegele, R.A.2
  • 20
    • 0028245754 scopus 로고
    • Apolipoprotein E in hyperlipidemia
    • Walden C.C., Hegele R.A. Apolipoprotein E in hyperlipidemia. Ann Intern Med 1994, 120:1026-1036.
    • (1994) Ann Intern Med , vol.120 , pp. 1026-1036
    • Walden, C.C.1    Hegele, R.A.2
  • 21
    • 78649755576 scopus 로고    scopus 로고
    • Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia
    • Musunuru K., Pirruccello J.P., Do R., et al. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. NEngl J Med 2010, 363:2220-2227.
    • (2010) NEngl J Med , vol.363 , pp. 2220-2227
    • Musunuru, K.1    Pirruccello, J.P.2    Do, R.3
  • 22
    • 58149262866 scopus 로고    scopus 로고
    • Anull mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
    • Pollin T.I., Damcott C.M., Shen H., et al. Anull mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection. Science 2008, 322:1702-1705.
    • (2008) Science , vol.322 , pp. 1702-1705
    • Pollin, T.I.1    Damcott, C.M.2    Shen, H.3
  • 23
    • 0035491250 scopus 로고    scopus 로고
    • Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia
    • Hubacek J.A., Berge K.E., Cohen J.C., Hobbs H.H. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat 2001, 18:359-360.
    • (2001) Hum Mutat , vol.18 , pp. 359-360
    • Hubacek, J.A.1    Berge, K.E.2    Cohen, J.C.3    Hobbs, H.H.4
  • 24
    • 67349154851 scopus 로고    scopus 로고
    • Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene
    • Pisciotta L., Fresa R., Bellocchio A., et al. Cholesteryl ester storage disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metab 2009, 97:143-148.
    • (2009) Mol Genet Metab , vol.97 , pp. 143-148
    • Pisciotta, L.1    Fresa, R.2    Bellocchio, A.3
  • 25
    • 0036079158 scopus 로고    scopus 로고
    • The human genome browser at UCSC
    • Kent W.J., Sugnet C.W., Furey T.S., et al. The human genome browser at UCSC. Genome Res 2002, 12:996-1006.
    • (2002) Genome Res , vol.12 , pp. 996-1006
    • Kent, W.J.1    Sugnet, C.W.2    Furey, T.S.3
  • 26
    • 67650064594 scopus 로고    scopus 로고
    • The Consensus Coding Sequence (CCDS) project: identifying a common protein-coding gene set for the human and mouse genomes
    • Pruitt K.D., Harrow J., Harte R.A., et al. The Consensus Coding Sequence (CCDS) project: identifying a common protein-coding gene set for the human and mouse genomes. Genome Res 2009, 19:1316-1323.
    • (2009) Genome Res , vol.19 , pp. 1316-1323
    • Pruitt, K.D.1    Harrow, J.2    Harte, R.A.3
  • 27
    • 0033987736 scopus 로고    scopus 로고
    • Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion
    • den Dunnen J.T., Antonarakis S.E. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000, 1591:7-12.
    • (2000) Hum Mutat , vol.1591 , pp. 7-12
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 28
    • 68149165614 scopus 로고    scopus 로고
    • Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
    • Kumar P., Henikoff S., Ng P.C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4:1073-1081.
    • (2009) Nat Protoc , vol.4 , pp. 1073-1081
    • Kumar, P.1    Henikoff, S.2    Ng, P.C.3
  • 29
    • 77951640946 scopus 로고    scopus 로고
    • Amethod and server for predicting damaging missense mutations
    • Adzhubei I.A., Schmidt S., Peshkin L., et al. Amethod and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.