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LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank

Background: Monogenic familial hypercholesterolaemia (FH) is an autosomal dominant disorder characterised by elevated low-density lipoprotein cholesterol (LDL-C) concentrations due to monogenic mutations in LDLR, APOB, PCSK9, and APOE. Some mutation-negative patients have a polygenic cause for eleva...

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Detalles Bibliográficos
Autores principales: Gratton, Jasmine, Finan, Chris, Hingorani, Aroon D., Humphries, Steve E., Futema, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9010053/
https://www.ncbi.nlm.nih.gov/pubmed/35432461
http://dx.doi.org/10.3389/fgene.2022.845498