Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject

Functional Characterization of p.(Arg160Gln) PCSK9 Variant Accidentally Found in a Hypercholesterolemic Subject

Familial hypercholesterolaemia (FH) is an autosomal dominant dyslipidaemia, characterised by elevated LDL cholesterol (LDL-C) levels in the blood. Three main genes are involved in FH diagnosis: LDL receptor (LDLr), Apolipoprotein B (APOB) and Protein convertase subtilisin/kexin type 9 (PCSK9) with g...

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Bibliographic Details
Main Authors: Asier Larrea-Sebal, Chiara Trenti, Shifa Jebari-Benslaiman, Stefano Bertolini, Sebastiano Calandra, Emanuele A. Negri, Efrem Bonelli, Asier Benito-Vicente, Leire Uraga-Gracianteparaluceta, César Martín, Tommaso Fasano
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:International Journal of Molecular Sciences
Subjects:
familial hypercholesterolemia
PCSK9
GOF
LOF
characterisation
activity
Online Access:https://www.mdpi.com/1422-0067/24/4/3330

Internet

https://www.mdpi.com/1422-0067/24/4/3330

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