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Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights

Familial hypercholesterolemia (FH) results in elevated levels of LDL-C, increasing the risk of developing cardiovascular disease. This study aims to identify genetic causes and examine the connection between genetic variants and the resulting genotype-protein phenotype in Saudi FH patients. Whole-ex...

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Principais autores: Hadiah Bassam Al Mahdi, Noor Ahmad Shaik, Babajan Banaganapalli, Sherif Edris, Rawabi Zahed, Hanan Abdelhalim ElSokary, Hussam Daghistani, Yousef Almoghrabi, Safa Bayashut, Alaa Y. Edrees, Abdulrahman Mujalli, Eman Alefishat, Ramu Elango, Zuhier Awan
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2025-01-01
Series:Computational and Structural Biotechnology Journal
Assuntos:
Familial Hypercholesterolemia
LDLR gene
Whole Exome Sequencing
3D structure
Molecular Docking
Molecular Dynamics Simulation
Acceso en liña:http://www.sciencedirect.com/science/article/pii/S2001037025003514
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