Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights

Background: Familial Hypercholesterolemia (FH) is a hereditary condition that causes a rise in blood cholesterol throughout a person’s life. FH can result in myocardial infarction and even sudden death if not treated. FH is thought to be caused mainly by variants in the gene for the low-density lipo...

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Detalles Bibliográficos
Autores principales: Athar, Mohammad, Toonsi, Mawaddah, Abduljaleel, Zainularifeen, Bouazzaoui, Abdellatif, Bogari, Neda M., Dannoun, Anas, Al-Allaf, Faisal A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381584/
https://www.ncbi.nlm.nih.gov/pubmed/37511917
http://dx.doi.org/10.3390/life13071542

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10381584/
https://www.ncbi.nlm.nih.gov/pubmed/37511917
http://dx.doi.org/10.3390/life13071542

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