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.

Affiliation

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 in En | MEDLINE | ID: mdl-34298557

Subject(s)

Hyperlipoproteinemia Type II; Proprotein Convertase 9; High-Throughput Nucleotide Sequencing; Humans; Hyperlipoproteinemia Type II/diagnosis; Hyperlipoproteinemia Type II/epidemiology; Hyperlipoproteinemia Type II/genetics; Phenotype; Proprotein Convertase 9/genetics; Receptors, LDL/genetics

Key words

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

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proprotein Convertase 9 / Hyperlipoproteinemia Type II Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Eur J Prev Cardiol Year: 2021 Document type: Article Affiliation country: Netherlands Country of publication: United kingdom

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