Article
Functional analysis of PCSK2 coding variants: A founder effect in the Old Order Amish population.
Diabetes research and clinical practice - 1 Sept 2017
Winters Alexandra, Ramos-Molina Bruno, Jarvela Timothy S, Yerges-Armstrong Laura, Pollin Toni I, Lindberg Iris
Abstract excerpt
AIMS: In humans, noncoding variants of PCSK2, the gene encoding prohormone convertase 2 (PC2), have been previously associated with risk for and age of onset of type 2 diabetes (T2D). The aims of this study were to identify coding variants in PCSK2; to determine their possible association with glucose handling; and to determine functional outcomes for coding variants in biochemical studies. METHODS: Exome-wide...
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