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Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

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@article{adfaf3b8b73841dbbfe6d00524ce5404,
title = "Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations",
abstract = "The effect of mutations on phenotype is often overestimated because of ascertainment bias. We determined the effect of background population on cholesterol phenotype associated with specific mutations in the low-density lipoprotein (LDL) receptor and the relative importance of background population and type of mutation (LDL receptor [LDLR] or APOB R3500Q) for cholesterol phenotype.",
keywords = "Adolescent, Adult, Aged, Aged, 80 and over, Amino Acid Substitution, Apolipoproteins B, Arginine, Bias (Epidemiology), Cholesterol, Female, Genetics, Population, Glutamine, Heterozygote Detection, Humans, Hyperlipoproteinemia Type II, Male, Middle Aged, Mutation, Myocardial Ischemia, Phenotype, Receptors, LDL",
author = "Anne Tybjaerg-Hansen and Jensen, {Henrik Kjaerulf} and Marianne Benn and Rolf Steffensen and Gorm Jensen and Nordestgaard, {B{\o}rge G}",
year = "2005",
doi = "10.1161/01.ATV.0000149380.94984.f0",
language = "English",
volume = "25",
pages = "211--5",
journal = "Arteriosclerosis, Thrombosis, and Vascular Biology",
issn = "1079-5642",
publisher = "Lippincott Williams & Wilkins",
number = "1",

}

RIS

TY - JOUR

T1 - Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations

AU - Tybjaerg-Hansen, Anne

AU - Jensen, Henrik Kjaerulf

AU - Benn, Marianne

AU - Steffensen, Rolf

AU - Jensen, Gorm

AU - Nordestgaard, Børge G

PY - 2005

Y1 - 2005

N2 - The effect of mutations on phenotype is often overestimated because of ascertainment bias. We determined the effect of background population on cholesterol phenotype associated with specific mutations in the low-density lipoprotein (LDL) receptor and the relative importance of background population and type of mutation (LDL receptor [LDLR] or APOB R3500Q) for cholesterol phenotype.

AB - The effect of mutations on phenotype is often overestimated because of ascertainment bias. We determined the effect of background population on cholesterol phenotype associated with specific mutations in the low-density lipoprotein (LDL) receptor and the relative importance of background population and type of mutation (LDL receptor [LDLR] or APOB R3500Q) for cholesterol phenotype.

KW - Adolescent

KW - Adult

KW - Aged

KW - Aged, 80 and over

KW - Amino Acid Substitution

KW - Apolipoproteins B

KW - Arginine

KW - Bias (Epidemiology)

KW - Cholesterol

KW - Female

KW - Genetics, Population

KW - Glutamine

KW - Heterozygote Detection

KW - Humans

KW - Hyperlipoproteinemia Type II

KW - Male

KW - Middle Aged

KW - Mutation

KW - Myocardial Ischemia

KW - Phenotype

KW - Receptors, LDL

U2 - 10.1161/01.ATV.0000149380.94984.f0

DO - 10.1161/01.ATV.0000149380.94984.f0

M3 - Journal article

C2 - 15528480

VL - 25

SP - 211

EP - 215

JO - Arteriosclerosis, Thrombosis, and Vascular Biology

JF - Arteriosclerosis, Thrombosis, and Vascular Biology

SN - 1079-5642

IS - 1

ER -

ID: 32554094