Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease.

Junna, Nella; Ruotsalainen, Sanni; Ripatti, Pietari; Ripatti, Samuli; Widén, Elisabeth

Junna, Nella; Ruotsalainen, Sanni; Ripatti, Pietari; Ripatti, Samuli; Widén, Elisabeth.

Afiliação

Junna N; Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland.
Ruotsalainen S; Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland.
Ripatti P; Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland.
FinnGen; Institute for Molecular Medicine Finland, FIMM, Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland.
Ripatti S; Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland; Analytic and Translational Genetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridg
Widén E; Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Biomedicum 2U, Tukholmankatu 8, 00290, Helsinki, Finland. Electronic address: elisabeth.widen@helsinki.fi.

Atherosclerosis ; 386: 117327, 2023 12.

Article em En | MEDLINE | ID: mdl-37848354

Assuntos

Doença da Artéria Coronariana; Hipercolesterolemia; Hiperlipoproteinemia Tipo II; Humanos; Hipercolesterolemia/diagnóstico; Hipercolesterolemia/genética; Hipercolesterolemia/epidemiologia; Doença da Artéria Coronariana/genética; Doença da Artéria Coronariana/epidemiologia; Hiperlipoproteinemia Tipo II/genética; Finlândia/epidemiologia; Fenótipo; Receptores de LDL/genética; Mutação; Pró-Proteína Convertase 9/genética

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença da Artéria Coronariana / Hipercolesterolemia / Hiperlipoproteinemia Tipo II Limite: Humans País como assunto: Europa Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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