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

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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Bibliographic Details
Main Authors: Mohammad Athar, Mawaddah Toonsi, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, Neda M. Bogari, Anas Dannoun, Faisal A. Al-Allaf
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Life
Subjects:
familial hypercholesterolemia
cholesterol
low-density lipoprotein receptor
next-generation sequencing
frameshift variant
cardiovascular diseases
Online Access:https://www.mdpi.com/2075-1729/13/7/1542

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https://www.mdpi.com/2075-1729/13/7/1542

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