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.
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
VL - 25
SP - 211
EP - 215
JO - Arteriosclerosis, Thrombosis, and Vascular Biology
JF - Arteriosclerosis, Thrombosis, and Vascular Biology
SN - 1079-5642
IS - 1
ER -