Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia – a preliminary report

Abstract 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...

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Bibliographic Details
Main Authors: C. S. Paththinige, J. R. D. K. Rajapakse, G. R. Constantine, K. P. Sem, R. R. Singaraja, R. W. Jayasekara, V. H. W. Dissanayake
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Lipids in Health and Disease
Subjects:
Familial hypercholesterolemia
LDLR gene
Single nucleotide variants (SNV)
Online Access:http://link.springer.com/article/10.1186/s12944-018-0763-z

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http://link.springer.com/article/10.1186/s12944-018-0763-z

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