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

Anne Tybjaerg-Hansen; Henrik Kjaerulf Jensen; Marianne Benn; Rolf Steffensen; Gorm Jensen; Børge G Nordestgaard

doi:http://dx.doi.org/10.1161/01.ATV.0000149380.94984.f0

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

Anne Tybjaerg-Hansen, Henrik Kjaerulf Jensen, Marianne Benn, Rolf Steffensen, Gorm Jensen, Børge G Nordestgaard

30 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Arteriosclerosis, Thrombosis, and Vascular Biology
Vol/bind	25
Udgave nummer	1
Sider (fra-til)	211-5
Antal sider	5
ISSN	1079-5642
DOI	https://doi.org/10.1161/01.ATV.0000149380.94984.f0
Status	Udgivet - 2005

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http://dx.doi.org/10.1161/01.ATV.0000149380.94984.f0

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=15528480&query_hl=22&itool=pubmed_docsum

Citationsformater

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AU - Tybjaerg-Hansen, Anne

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AU - Steffensen, Rolf

AU - Jensen, Gorm

AU - Nordestgaard, Børge G

PY - 2005

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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.

U2 - http://dx.doi.org/10.1161/01.ATV.0000149380.94984.f0

DO - http://dx.doi.org/10.1161/01.ATV.0000149380.94984.f0

M3 - Journal article

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EP - 215

JO - Arteriosclerosis, Thrombosis, and Vascular Biology

JF - Arteriosclerosis, Thrombosis, and Vascular Biology

IS - 1

ER -

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

Abstract

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