| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5951345 | Atherosclerosis | 2010 | 4 Pages |
Abstract
Compound heterozygosity for the nonsense mutation R282X and the missense mutation Y1532C in the ABCA1 gene causes Tangier disease. R282X has a detrimental effect on the function of ABCA1 since a premature stop codon is introduced. Mutation Y1532C disrupts the normal function of ABCA1 as determined by in vitro analyses.
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Authors
Jamie Cameron, Trine Ranheim, Bente Halvorsen, Mari Ann Kulseth, Trond P. Leren, Knut Erik Berge,