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

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...

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Detalles Bibliográficos
Autores principales: Paththinige, C. S., Rajapakse, J. R. D. K., Constantine, G. R., Sem, K. P., Singaraja, R. R., Jayasekara, R. W., Dissanayake, V. H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932885/
https://www.ncbi.nlm.nih.gov/pubmed/29720182
http://dx.doi.org/10.1186/s12944-018-0763-z