Article
Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.
Lipids in health and disease - 2 May 2018
Paththinige C S, Rajapakse J R D K, Constantine G R, Sem K P, Singaraja R R, Jayasekara R W, Dissanayake V H W
Abstract excerpt
BACKGROUND: Hypercholesterolemia is a major determinant of cardiovascular disease-associated morbidity and mortality. Mutations in the LDL-receptor (LDLR) gene are implicated in the majority of the cases with familial hypercholesterolemia (FH). However, the spectrum of mutations in the LDLR gene in Sri Lankan patients has not been investigated. The objective of this study was to report the frequency and spectrum...
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