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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Detalles Bibliográficos
Autores principales: Larrea-Sebal, Asier, Trenti, Chiara, Jebari-Benslaiman, Shifa, Bertolini, Stefano, Calandra, Sebastiano, Negri, Emanuele A., Bonelli, Efrem, Benito-Vicente, Asier, Uraga-Gracianteparaluceta, Leire, Martín, César, Fasano, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9959173/
https://www.ncbi.nlm.nih.gov/pubmed/36834740
http://dx.doi.org/10.3390/ijms24043330

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9959173/
https://www.ncbi.nlm.nih.gov/pubmed/36834740
http://dx.doi.org/10.3390/ijms24043330

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