Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia

Introduction: Familial hypercholesterolaemia (FH) is a common autosomal dominant genetic condition, characterised by elevated LDL cholesterol (LDL-C), leading to premature cardiovascular disease (CVD). Early and accurate diagnosis, with implementation of preventative therapies, has a major impact on...

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Detalles Bibliográficos
Autores principales: Neves, Emma, Khan, Tina, Williams, Maggie, Carrera, Marta, Banya, Winston, Brugada, Ramon, Ferrer, Carles, Morris-Rosendahl, Deborah J, Barbir, Mahmoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Magdi Yacoub Heart Foundation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9491391/
https://www.ncbi.nlm.nih.gov/pubmed/36185161
http://dx.doi.org/10.21542/gcsp.2021.31

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