Polygenic Markers in Patients Diagnosed of Autosomal Dominant Hypercholesterolemia in Catalonia: Distribution of Weighted LDL-c-Raising SNP Scores and Refinement of Variant Selection

Familial hypercholesterolemia (FH) is associated with mutations in the low-density lipoprotein (LDL) receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) genes. A pathological variant has not been identified in 30–70% of clinically diagnosed FH patients, and...

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Detalles Bibliográficos
Autores principales: Martín-Campos, Jesús M., Ruiz-Nogales, Sheila, Ibarretxe, Daiana, Ortega, Emilio, Sánchez-Pujol, Elisabet, Royuela-Juncadella, Meritxell, Vila, Àlex, Guerrero, Carolina, Zamora, Alberto, Soler i Ferrer, Cristina, Arroyo, Juan Antonio, Carreras, Gemma, Martínez-Figueroa, Susana, Roig, Rosa, Plana, Núria, Blanco-Vaca, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554998/
https://www.ncbi.nlm.nih.gov/pubmed/32942679
http://dx.doi.org/10.3390/biomedicines8090353

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554998/
https://www.ncbi.nlm.nih.gov/pubmed/32942679
http://dx.doi.org/10.3390/biomedicines8090353

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