Phenotype of heterozygotes for low-density lipoprotein receptor mutations identified in different background populations
Research output: Contribution to journal › Journal article › Research › peer-review
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 | |
| Publication status | Published - 2005 |
ID: 34142526