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A novel mutation in <i>KCNK16</i> causing a gain-of-function in the TALK-1 potassium channel: a new cause of maturity onset diabetes of the young

2020-02-04

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic disorders of impaired glucose-stimulated insulin secretion (GSIS). Mechanisms include β-cell K ATP channel dysfunction (e.g., KCNJ11 (MODY13) or ABCC8 (MODY12) mutations); however, no other β-cell channelopathies have been identified in MODY. <h4>Methods</h4> A four-generation family with...

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Literature Corpus work
c81360fa-1ac7-5031-8399-12caf026bbf5
DOI
10.1101/2020.02.04.929430
Open publication

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A novel mutation in <i>KCNK16</i> causing a gain-of-function in the TALK-1 potassium channel: a new cause of maturity onset diabetes of the youngDOI 10.1101/2020.02.04.929430
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