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      Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.

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          Abstract

          Ideally, familial hypercholesterolaemia (FH) is diagnosed by testing for mutations that decrease the catabolism of low-density lipoprotein (LDL) cholesterol; however, genetic testing is not universally available. The aim of the present study was to assess the frequency and predictors of FH causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study.

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          Author and article information

          Journal
          Eur. Heart J.
          European heart journal
          Oxford University Press (OUP)
          1522-9645
          0195-668X
          May 01 2016
          : 37
          : 17
          Affiliations
          [1 ] Department of Clinical Biochemistry, Gentofte Hospital, Copenhagen University Hospital, Kildegårdsvej 28, DK-2900 Gentofte, Denmark The Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark Marianne.Benn@regionh.dk.
          [2 ] School of Medicine and Pharmacology, Lipid Disorders Clinic, Cardiovascular Medicine, Royal Perth Hospital, University of Western Australia, Crawley, Australia.
          [3 ] The Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
          [4 ] The Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Copenhagen, Denmark.
          Article
          ehw028
          10.1093/eurheartj/ehw028
          26908947
          cf363bee-8029-4f74-bb0e-f25fafde6438
          History

          APOB mutation,Coronary artery disease,Familial hypercholesterolaemia,General population,Ischaemic heart disease,LDLR mutation,Low-density lipoprotein,Myocardial infarction

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