Article
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels.
Proceedings of the National Academy of Sciences of the United States of America - 7 Feb 2006
Cohen Jonathan C, Pertsemlidis Alexander, Fahmi Saleemah, Esmail Sophie, Vega Gloria L, Grundy Scott M, Hobbs Helen H
Abstract excerpt
An approach to understand quantitative traits was recently proposed based on the finding that nonsynonymous (NS) sequence variants in certain genes are preferentially enriched at one extreme of the population distribution. The NS variants, although individually rare, are cumulatively frequent and influence quantitative traits, such as plasma lipoprotein levels. Here, we use the NS variant technique to demonstrate...
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