Article
Functional promoter polymorphism in SREBP cleavage-activating protein (SCAP).
Journal of human genetics - 1 Jan 2002
Cao Henian, Miskie Brooke A, Hegele Robert A
Abstract excerpt
We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report additional common single-nucleotide polymorphisms in the SCAP promoter and coding sequence that were...
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