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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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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spelling	sg-nus-scholar.10635-1753872020-09-09T13:42:23Z Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report Paththinige, C.S Rajapakse, J.R.D.K Constantine, G.R Sem, K.P Singaraja, R.R Jayasekara, R.W Dissanayake, V.H.W DUKE-NUS MEDICAL SCHOOL DEPT OF MEDICINE DNA low density lipoprotein cholesterol low density lipoprotein receptor LDLR protein, human low density lipoprotein cholesterol low density lipoprotein receptor 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 coronary artery disease genetics heterozygote hypercholesterolemia middle aged mutation pathology Sri Lanka Adult Aged Cholesterol, LDL Coronary Artery Disease Female Heterozygote Humans Hypercholesterolemia Male Middle Aged Mutation Phenotype Receptors, LDL Sri Lanka 10.1186/s12944-018-0763-z Lipids in Health and Disease 17 1 100 2020-09-09T10:07:36Z 2020-09-09T10:07:36Z 2018 Article Paththinige, C.S, Rajapakse, J.R.D.K, Constantine, G.R, Sem, K.P, Singaraja, R.R, Jayasekara, R.W, Dissanayake, V.H.W (2018). 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 17 (1) : 100. ScholarBank@NUS Repository. https://doi.org/10.1186/s12944-018-0763-z 1476-511X https://scholarbank.nus.edu.sg/handle/10635/175387 Unpaywall 20200831
institution	National University of Singapore
building	NUS Library
country	Singapore
collection	ScholarBank@NUS
topic	DNA low density lipoprotein cholesterol low density lipoprotein receptor LDLR protein, human low density lipoprotein cholesterol low density lipoprotein receptor 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 coronary artery disease genetics heterozygote hypercholesterolemia middle aged mutation pathology Sri Lanka Adult Aged Cholesterol, LDL Coronary Artery Disease Female Heterozygote Humans Hypercholesterolemia Male Middle Aged Mutation Phenotype Receptors, LDL Sri Lanka
spellingShingle	DNA low density lipoprotein cholesterol low density lipoprotein receptor LDLR protein, human low density lipoprotein cholesterol low density lipoprotein receptor 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 coronary artery disease genetics heterozygote hypercholesterolemia middle aged mutation pathology Sri Lanka Adult Aged Cholesterol, LDL Coronary Artery Disease Female Heterozygote Humans Hypercholesterolemia Male Middle Aged Mutation Phenotype Receptors, LDL Sri Lanka Paththinige, C.S Rajapakse, J.R.D.K Constantine, G.R Sem, K.P Singaraja, R.R Jayasekara, R.W Dissanayake, V.H.W Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report
description	10.1186/s12944-018-0763-z
author2	DUKE-NUS MEDICAL SCHOOL
author_facet	DUKE-NUS MEDICAL SCHOOL Paththinige, C.S Rajapakse, J.R.D.K Constantine, G.R Sem, K.P Singaraja, R.R Jayasekara, R.W Dissanayake, V.H.W
format	Article
author	Paththinige, C.S Rajapakse, J.R.D.K Constantine, G.R Sem, K.P Singaraja, R.R Jayasekara, R.W Dissanayake, V.H.W
author_sort	Paththinige, C.S
title	Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report
title_short	Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report
title_full	Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report
title_fullStr	Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report
title_full_unstemmed	Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - A preliminary report
title_sort	spectrum of low-density lipoprotein receptor (ldlr) mutations in a cohort of sri lankan patients with familial hypercholesterolemia - a preliminary report
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/175387
_version_	1681101924702617600

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

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