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A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp, Laurens F; Hartgers, Merel L; Peter, Jorge; Dallinga-Thie, Geesje M; Zuurbier, Linda; Defesche, Joep C; Grefhorst, Aldo; Hovingh, G Kees.
Affiliation
  • Reeskamp LF; Department of Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (L.F.R., M.L.H., G.M.D.-T., G.K.H.).
  • Hartgers ML; Department of Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (L.F.R., M.L.H., G.M.D.-T., G.K.H.).
  • Peter J; Department of Experimental Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (J.P., G.M.D.-T., A.G.).
  • Dallinga-Thie GM; Department of Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (L.F.R., M.L.H., G.M.D.-T., G.K.H.).
  • Zuurbier L; Department of Experimental Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (J.P., G.M.D.-T., A.G.).
  • Defesche JC; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (L.Z., J.C.D.).
  • Grefhorst A; Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (L.Z., J.C.D.).
  • Hovingh GK; Department of Experimental Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (J.P., G.M.D.-T., A.G.).
Circ Genom Precis Med ; 11(12): e002385, 2018 12.
Article in En | MEDLINE | ID: mdl-30562117
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, LDL / Introns / Point Mutation / Hypercholesterolemia Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Circ Genom Precis Med Year: 2018 Document type: Article Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, LDL / Introns / Point Mutation / Hypercholesterolemia Type of study: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Circ Genom Precis Med Year: 2018 Document type: Article Country of publication: Estados Unidos