OR28-3 A Mutation in KCNK16 Segregating with Autosomal Dominant Non-Ketotic Diabetes Drastically Increases TALK-1 Membrane Current: A Novel Gene for MODY?

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes. Exome sequencing of a non-obese four-generation family with autosomal dominant non-ketotic antibody-negative diabetes, who were negative for mutations in known MODY genes, identified a novel coding variant in KCNK16 (NM_001...

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Udgivet i:J Endocr Soc
Main Authors: Johnson, Stephanie, Graff, Sarah, Dadi, Prasanna, Marshall, Mhairi, Leo, Paul, McInerney-Leo, Aideen, Brown, Matthew, Jacobson, David, Duncan, Emma
Format: Artigo
Sprog:Inglês
Udgivet: Endocrine Society 2019
Fag:
Diabetes Mellitus and Glucose Metabolism
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6554761/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR28-3
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