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...
Main Authors: | , , , , , , , , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
American Diabetes Association
2017
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