Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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K
ATP
channels regulate insulin secretion from pancreatic β‐cells. Loss‐ and gain‐of‐function mutations in the genes encoding the Kir6.2 and SUR1 subunits of this channel cause hyperinsulinism of infancy and neonatal diabetes, respectively. We report two novel mutations in the gating loop of Kir6.2 which cause neonatal diabetes with developme...
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Full title
Adjacent mutations in the gating loop of Kir6.2 produce neonatal diabetes and hyperinsulinism
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3378123
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3378123
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ISSN
1757-4676
E-ISSN
1757-4684
DOI
10.1002/emmm.200900018
