A partial loss-of-function variant in AKT2 is associated with reduced insulin-mediated glucose uptake in multiple insulin sensitive tissues: a genotype-based callback positron emission tomography study

Rare fully penetrant mutations in AKT2 are an established cause of monogenic disorders of glucose metabolism. Recently, a novel partial loss-of-function AKT2 coding variant (p.Pro50Thr) was identified that is nearly specific to Finns (frequency 1.1%), with the low-frequency allele associated with an...

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Hlavní autoři:	Latva-Rasku, A, Honka, M, Stančáková, A, Koistinen, H, Kuusisto, J, Guan, L, Manning, A, Stringham, H, Gloyn, A, Lindgren, C, Collins, F, Mohlke, K, Scott, L, Karjalainen, T, Nummenmaa, L, Boehnke, M, Nuutila, P, Laakso, M
Médium:	Journal article
Jazyk:	English
Vydáno:	American Diabetes Association 2017

A partial loss-of-function variant in AKT2 is associated with reduced insulin-mediated glucose uptake in multiple insulin sensitive tissues: a genotype-based callback positron emission tomography study

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