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Coding Variation in...
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Stitziel, Nathan O.Washington University in St. Louis,University of Verona
(author)
Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease
- Article/chapterEnglish2016
Publisher, publication year, extent ...
Numbers
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LIBRIS-ID:oai:DiVA.org:umu-119276
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https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-119276URI
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https://doi.org/10.1056/NEJMoa1507652DOI
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https://lup.lub.lu.se/record/f898cd57-135e-4de5-881b-0ff15cdc1dcaURI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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Errata New England Journal of Medicine (2016) 374(19), p 1898 DOI: 10.1056/NEJMxx160012
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BACKGROUND The discovery of low-frequency coding variants affecting the risk of coronary artery disease has facilitated the identification of therapeutic targets. METHODS Through DNA genotyping, we tested 54,003 coding-sequence variants covering 13,715 human genes in up to 72,868 patients with coronary artery disease and 120,770 controls who did not have coronary artery disease. Through DNA sequencing, we studied the effects of loss-of-function mutations in selected genes. RESULTS We confirmed previously observed significant associations between coronary artery disease and low-frequency missense variants in the genes LPA and PCSK9. We also found significant associations between coronary artery disease and low-frequency missense variants in the genes SVEP1 (p.D2702G; minor-allele frequency, 3.60%; odds ratio for disease, 1.14; P = 4.2x10(-10)) and ANGPTL4 (p.E40K; minor-allele frequency, 2.01%; odds ratio, 0.86; P = 4.0x10(-8)), which encodes angiopoietin-like 4. Through sequencing of ANGPTL4, we identified 9 carriers of loss-of-function mutations among 6924 patients with myocardial infarction, as compared with 19 carriers among 6834 controls (odds ratio, 0.47; P = 0.04); carriers of ANGPTL4 loss-of-function alleles had triglyceride levels that were 35% lower than the levels among persons who did not carry a loss-of-function allele (P = 0.003). ANGPTL4 inhibits lipoprotein lipase; we therefore searched for mutations in LPL and identified a loss-of-function variant that was associated with an increased risk of coronary artery disease (p.D36N; minor-allele frequency, 1.9%; odds ratio, 1.13; P = 2.0x10(-4)) and a gain-of-function variant that was associated with protection from coronary artery disease (p.S447*; minor-allele frequency, 9.9%; odds ratio, 0.94; P = 2.5x10(-7)). CONCLUSIONS We found that carriers of loss-of-function mutations in ANGPTL4 had triglyceride levels that were lower than those among noncarriers; these mutations were also associated with protection from coronary artery disease.
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Stirrups, Kathleen E.University of Cambridge
(author)
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Masca, Nicholas G. D.Glenfield Hospital,University of Verona
(author)
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Erdmann, JeanetteGerman Centre for Cardiovascular Research
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Ferrario, Paola G.British Columbia Children's Hospital
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Koenig, Inke R.British Columbia Children's Hospital
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Weeke, Peter E.Copenhagen University Hospital
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Webb, Thomas R.Glenfield Hospital
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Auer, Paul L.University of Wisconsin-Milwaukee
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Schick, Ursula M.Icahn School of Medicine at Mount Sinai
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Lu, YingchangIcahn School of Medicine at Mount Sinai
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Zhang, HeUniversity of Michigan
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Dube, Marie-PierreMontreal Heart Institute
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Goel, AnujUniversity of Oxford
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Farrall, MartinUniversity of Oxford
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Peloso, Gina M.Helsinki University Central Hospital
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Won, Hong-HeeSungkyunkwan University
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Do, RonIcahn School of Medicine at Mount Sinai
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van Iperen, ErikAcademic Medical Center of University of Amsterdam (AMC)
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Kanoni, StavroulaQueen Mary University
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Kruppa, JochenUniversity of Göttingen
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Mahajan, AnubhaUniversity of Oxford
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Scott, Robert A.Addenbrooke's Hospital,King Abdulaziz University
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Willenborg, ChristinaGerman Centre for Cardiovascular Research
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Braund, Peter S.Glenfield Hospital
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van Capelleveen, Julian C.Academic Medical Center of University of Amsterdam (AMC)
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Doney, Alex S. F.University of Dundee
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Donnelly, Louise A.University of Dundee
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Asselta, RosannaHumanitas Research Hospital
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Merlini, Piera A.Niguarda Hospital
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Duga, StefanoHumanitas Research Hospital
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Marziliano, NicolaAssociazione per lo Studio della Trombosi in Cardiologia
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Denny, Josh C.Vanderbilt University
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Shaffer, Christian M.Vanderbilt University,Helmholtz Zentrum München
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El-Mokhtari, Nour EddineKreiskrankenhaus Rendsburg
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Franke, AndreUniversity of Kiel
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Gottesman, OmriIcahn School of Medicine at Mount Sinai
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Heilmann, StefanieUniversity of Bonn
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Hengstenberg, ChristianTechnical University of Munich
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Hoffmann, PerUniversity of Basel
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Holmen, Oddgeir L.St. Olav’s University Hospital
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Hveem, KristianNord-Trøndelag Health Trust
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Jansson, Jan-HåkanUmeå University,Umeå universitet,Medicin(Swepub:umu)jaja0006
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Joeckel, Karl-HeinzUniversity Hospital Essen
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Kessler, ThorstenTechnical University of Munich
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Kriebel, JenniferGerman Center for Diabetes Research
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Laugwitz, Karl L.Klinikum rechts der Isar
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Marouli, EiriniQueen Mary University
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Martinelli, NicolaUniversity of Verona
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McCarthy, Mark I.Churchill Hospital
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Van Zuydam, Natalie R.University of Oxford
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Meisinger, Christa
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Esko, TonuUniversity of Tartu
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Mihailov, EvelinUniversity of Tartu
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Andersson Escher, StefanLund University(Swepub:umu)stan0002
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Alver, MarisUniversity of Tartu
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Moebus, SusanneUniversity Hospital Essen
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Morris, Andrew D.University of Edinburgh
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Mueller-Nurasyid, MartinaHelmholtz Zentrum München
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Nikpay, MajidUniversity of Ottawa
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Olivieri, OlivieroMerck Sharp And Dohme Corp., US
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Perreault, Louis-Philippe LemieuxMontreal Heart Institute
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AlQarawi, AlaaUniversity of Dundee
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Robertson, Neil R.University of Oxford
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Akinsanya, Karen O.
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Reilly, Dermot F.Merck Sharp And Dohme Corp., US
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Vogt, Thomas F.Merck Sharp And Dohme Corp., US
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Yin, WuMerck Sharp And Dohme Corp., US
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Asselbergs, Folkert W.University Medical Center Utrecht
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Kooperberg, CharlesUniversity of Washington
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Jackson, Rebecca D.Ohio State University
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Stahl, EliIcahn School of Medicine at Mount Sinai
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Strauch, KonstantinHelmholtz Zentrum München
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Varga, Tibor V.Lund University,Lunds universitet,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Genetic and Molecular Epidemiology,Lund University Research Groups(Swepub:lu)med-tv_
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Waldenberger, MelanieHelmholtz Zentrum München
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Zeng, LingyaoTechnical University of Munich
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Kraja, Aldi T.Washington University in St. Louis
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Liu, ChunyuNational Heart Lung and Blood Institute
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Ehret, Georg B.Johns Hopkins University
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Newton-Cheh, ChristopherHelsinki University Central Hospital
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Chasman, Daniel I.Brigham and Women's Hospital / Harvard Medical School
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Chowdhury, RajivUniversity of Cambridge
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Ferrario, MarcoUniversity of Insubria
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Ford, IanUniversity of Glasgow
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Jukema, J. WouterLeiden University Medical Centre
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Kee, FrankQueen's University Belfast
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Kuulasmaa, KariFinnish National Institute for Health and Welfare
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Nordestgaard, Borge G.Copenhagen University Hospital
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Perola, MarkusFinnish National Institute for Health and Welfare(Swepub:lu)med-mkp
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Saleheen, DanishCenter for Non-Communicable Diseases
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Sattar, NaveedUniversity of Glasgow
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Surendran, PraveenUniversity of Cambridge
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Tregouet, DavidPitié-Salpêtrière University Hospital
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Young, RobinUniversity of Cambridge
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Howson, Joanna M. M.University of Cambridge
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Butterworth, Adam S.University of Cambridge
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Danesh, JohnWellcome Trust Sanger Institute
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Ardissino, DiegoAssociazione per lo Studio della Trombosi in Cardiologia
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Bottinger, Erwin P.Icahn School of Medicine at Mount Sinai
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Erbel, RaimundUniversity Hospital Essen
(author)
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Franks, Paul W.Umeå University,Lund University,Lunds universitet,Livsmedelsteknik,Avdelningen för livsmedel och läkemedel,Institutionen för processteknik och tillämpad biovetenskap,Institutioner vid LTH,Lunds Tekniska Högskola,Genetisk och molekylär epidemiologi,Forskargrupper vid Lunds universitet,Department of Food Technology, Engineering and Nutrition,Division of Food and Pharma,Department of Process and Life Science Engineering,Departments at LTH,Faculty of Engineering, LTH,Genetic and Molecular Epidemiology,Lund University Research Groups,Harvard University,Norrland University Hospital(Swepub:lu)med-plf
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Girelli, Domenico
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Hall, Alistair S.University of Leeds
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Hovingh, G. KeesAcademic Medical Center of University of Amsterdam (AMC)
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Kastrati, AdnanTechnical University of Munich
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Lieb, WolfgangUniversity of Kiel
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Meitinger, ThomasHelmholtz Zentrum München
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Kraus, William E.Duke University
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Shah, Svati H.Duke University
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McPherson, RuthUniversity of Ottawa
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Orho-Melander, MarjuLund University,Lunds universitet,Diabetes - kardiovaskulär sjukdom,Forskargrupper vid Lunds universitet,Diabetes - Cardiovascular Disease,Lund University Research Groups(Swepub:lu)endo-mor
(author)
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Melander, OlleLund University,Lunds universitet,Institutionen för kliniska vetenskaper, Malmö,Medicinska fakulteten,Kardiovaskulär forskning - hypertoni,Forskargrupper vid Lunds universitet,Department of Clinical Sciences, Malmö,Faculty of Medicine,Cardiovascular Research - Hypertension,Lund University Research Groups(Swepub:lu)endo-ome
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Metspalu, AndresUniversity of Tartu
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Palmer, Colin N. A.
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Peters, AnnetteHelmholtz Zentrum München
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Rader, Daniel J.University of Pennsylvania
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Reilly, Muredach P.University of Pennsylvania
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Loos, Ruth J. F.Icahn School of Medicine at Mount Sinai
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Reiner, Alex P.University of Washington
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Roden, Dan M.Vanderbilt University
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Tardif, Jean-ClaudeMontreal Heart Institute
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Thompson, John R.Glenfield Hospital
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Wareham, Nicholas J.Addenbrooke's Hospital
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Watkins, HughUniversity of Oxford
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Willer, Cristen J.University of Michigan
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Kathiresan, SekarHelsinki University Central Hospital
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Deloukas, PanosKing Abdulaziz University
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Samani, Nilesh J.Glenfield Hospital
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Schunkert, HeribertTechnical University of Munich
(author)
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Washington University in St. LouisUniversity of Verona
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In:New England Journal of Medicine374:12, s. 1134-11440028-47931533-4406
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