Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population
2003
Aims/hypothesis
ATP-sensitive potassium (KATP) channels are crucial for the regulation of insulin secretion from pancreatic beta cells and mutations in either the Kir6.2 or SUR1 subunit of this channel can cause congenital hyperinsulinism (CHI). The aim of this study was to analyse the functional consequences of four CHI mutations (A1457T, V1550D and L1551V in SUR1, and K67N in Kir6.2) recently identified in the Finnish population.
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KQI