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 Citations (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.

Original language	English
Journal	Arteriosclerosis, Thrombosis, and Vascular Biology
Volume	25
Issue number	1
Pages (from-to)	211-5
Number of pages	5
ISSN	1079-5642
DOIs	https://doi.org/10.1161/01.ATV.0000149380.94984.f0
Publication status	Published - 2005

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Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations. / Tybjaerg-Hansen, Anne; Jensen, Henrik Kjaerulf; Benn, Marianne et al.

In: Arteriosclerosis, Thrombosis, and Vascular Biology, Vol. 25, No. 1, 2005, p. 211-5.

Research output: Contribution to journal › Journal article › Research › peer-review

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AU - Jensen, Gorm

AU - Nordestgaard, Børge G

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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.

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JO - Arteriosclerosis, Thrombosis, and Vascular Biology

JF - Arteriosclerosis, Thrombosis, and Vascular Biology

IS - 1

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

Abstract

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