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Article

Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.

Current vascular pharmacology - 1 Jan 2022

Alnouri Fahad, Al-Allaf Faisal A, Athar Mohammad, Al-Rasadi Khalid, Alammari Dalal, Alanazi Menwar, Abduljaleel Zainularifeen, Awan Zuhier, Bouazzaoui Abdellatif, Dairi Ghida, Elbjeirami Wafa M, Karra Hussam, Kinsara Abdulhalim J, Taher Mohiuddin M

Abstract excerpt

BACKGROUND: Familial hypercholesterolemia (FH) is a common illness mainly caused by variants occurring in the low-density lipoprotein receptor (LDLR) gene. FH is a leading cause of coronary artery disease. OBJECTIVE: This study aims to determine genetic defect(s) in homozygous and heterozygous FH index patients and their first-degree blood relatives and understand the genotype-phenotype correlation. METHODS: This...

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PMID: 35249492
DOI: 10.2174/1570161120666220304101606

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