Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low‐density lipoprotein receptor gene are associated with familial hypercholesterolemia

Abstract

Human MutationVolume 7, Issue 3 p. 269-271 Mutations in Brief Two point mutations (313 + 1G→A and 313 + 1G→T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia H.K. Jensen, Corresponding Author H.K. Jensen Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Denmark Department of Internal Medicine and Cardiology, Århus Amtssygehus University Hospital, Århus, DenmarkCenter for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, DenmarkSearch for more papers by this authorL.G. Jensen, L.G. Jensen Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Denmark Institute of Human Genetics, University of Aarhus, DenmarkSearch for more papers by this authorP.S. Hansen, P.S. Hansen Department of Internal Medicine and Cardiology, Århus Amtssygehus University Hospital, Århus, DenmarkSearch for more papers by this authorO. Færgeman, O. Færgeman Department of Internal Medicine and Cardiology, Århus Amtssygehus University Hospital, Århus, DenmarkSearch for more papers by this authorN. Gregersen, N. Gregersen Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, DenmarkSearch for more papers by this author H.K. Jensen, Corresponding Author H.K. Jensen Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Denmark Department of Internal Medicine and Cardiology, Århus Amtssygehus University Hospital, Århus, DenmarkCenter for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, DenmarkSearch for more papers by this authorL.G. Jensen, L.G. Jensen Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, Denmark Institute of Human Genetics, University of Aarhus, DenmarkSearch for more papers by this authorP.S. Hansen, P.S. Hansen Department of Internal Medicine and Cardiology, Århus Amtssygehus University Hospital, Århus, DenmarkSearch for more papers by this authorO. Færgeman, O. Færgeman Department of Internal Medicine and Cardiology, Århus Amtssygehus University Hospital, Århus, DenmarkSearch for more papers by this authorN. Gregersen, N. Gregersen Center for Medical Molecular Biology, Aarhus University Hospital and Faculty of Health Sciences, Skejby Sygehus, DenmarkSearch for more papers by this author First published: 1996 https://doi.org/10.1002/(SICI)1098-1004(1996)7:3<269::AID-HUMU13>3.0.CO;2-0Citations: 12AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume7, Issue31996Pages 269-271 RelatedInformation