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A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

25 May 2021

Abstract excerpt

Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic disorders of impaired pancreatic β cell function. The mechanisms underlying MODY include β cell KATP channel dysfunction (e.g., KCNJ11 [MODY13] or ABCC8 [MODY12] mutations); however, no other β cell channelopathies have been associated with MODY to date. Here, we have identified a nonsynonymous coding variant in KCNK16...

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PMID: 34032641
DOI: 10.1172/jci.insight.138057

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