Next-generation sequencing to confirm clinical familial hypercholesterolemia.

Reeskamp, Laurens F; Tromp, Tycho R; Defesche, Joep C; Grefhorst, Aldo; Stroes, Erik S G; Hovingh, G Kees; Zuurbier, Linda

Reeskamp, Laurens F; Tromp, Tycho R; Defesche, Joep C; Grefhorst, Aldo; Stroes, Erik S G; Hovingh, G Kees; Zuurbier, Linda.

Afiliação

Reeskamp LF; Department of Vascular Medicine, University of Amsterdam, The Netherlands.
Tromp TR; Department of Vascular Medicine, University of Amsterdam, The Netherlands.
Defesche JC; Department of Clinical Genetics, University of Amsterdam, The Netherlands.
Grefhorst A; Department of Experimental Vascular Medicine, University of Amsterdam, The Netherlands.
Stroes ESG; Department of Vascular Medicine, University of Amsterdam, The Netherlands.
Hovingh GK; Department of Vascular Medicine, University of Amsterdam, The Netherlands.
Zuurbier L; Department of Clinical Genetics, University of Amsterdam, The Netherlands.

Eur J Prev Cardiol ; 28(8): 875-883, 2021 07 23.

Article em En | MEDLINE | ID: mdl-34298557

Assuntos

Hiperlipoproteinemia Tipo II; Pró-Proteína Convertase 9; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Hiperlipoproteinemia Tipo II/diagnóstico; Hiperlipoproteinemia Tipo II/epidemiologia; Hiperlipoproteinemia Tipo II/genética; Fenótipo; Pró-Proteína Convertase 9/genética; Receptores de LDL/genética

Palavras-chave

APOB; LDLR; PCSK9; DLCN; Familial hypercholesterolemia; MedPed; cholesterol; lipid metabolism; mutation; next-generation sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Pró-Proteína Convertase 9 / Hiperlipoproteinemia Tipo II Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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