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

10.1186/s12944-018-0763-z

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Bibliographic Details
Main Authors:	Paththinige, C.S, Rajapakse, J.R.D.K, Constantine, G.R, Sem, K.P, Singaraja, R.R, Jayasekara, R.W, Dissanayake, V.H.W
Other Authors:	DUKE-NUS MEDICAL SCHOOL
Format:	Article
Published:	2020
Subjects:	DNA low density lipoprotein cholesterol low density lipoprotein receptor LDLR protein, human adult aged Article blood sampling clinical article clinical feature cohort analysis cornea curvature coronary artery disease disease classification disease severity DNA extraction familial hypercholesterolemia family history female gene frequency genetic variability heterozygote human hypercholesterolemia LDLR gene low density lipoprotein cholesterol level male missense mutation Modified Simon Broome criteria phenotype Sanger sequencing Sri Lankan xanthelasma genetics middle aged mutation pathology Sri Lanka Adult Aged Cholesterol, LDL Coronary Artery Disease Female Heterozygote Humans Hypercholesterolemia Male Middle Aged Mutation Phenotype Receptors, LDL
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/175387
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Institution:	National University of Singapore

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Summary:	10.1186/s12944-018-0763-z