Article
Functional consequences of a novel variant of PCSK1.
PloS one - 1 Jan 2013
Pickett Lindsay A, Yourshaw Michael, Albornoz Valeria, Chen Zijun, Solorzano-Vargas R Sergio, Nelson Stanley F, Martín Martín G, Lindberg Iris
Abstract excerpt
BACKGROUND: Common single nucleotide polymorphisms (SNPs) in proprotein convertase subtilisin/kexin type 1 with modest effects on PC1/3 in vitro have been associated with obesity in five genome-wide association studies and with diabetes in one genome-wide association study. We here present a novel SNP and compare its biosynthesis, secretion and catalytic activity to wild-type enzyme and to SNPs that have been...
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