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Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

BACKGROUND: The voltage-gated potassium channel Kv7.1 encoded by KCNQ1 is located in both cardiac myocytes and insulin producing beta cells. Loss-of-function mutations in KCNQ1 causes long QT syndrome along with glucose-stimulated hyperinsulinemia, increased C-peptide and postprandial hypoglycemia....

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Detalles Bibliográficos
Autores principales: Zhang, Jinyi, Juhl, Christian R., Hylten-Cavallius, Louise, Salling-Olsen, Morten, Linneberg, Allan, Holst, Jens Juul, Hansen, Torben, Kanters, Jørgen K., Torekov, Signe S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7069191/
https://www.ncbi.nlm.nih.gov/pubmed/32164657
http://dx.doi.org/10.1186/s12902-020-0513-x