A Novel KCNJ11 Mutation Associated with Transient Neonatal Diabetes

Neonatal diabetes mellitus (NDM) is a rare type of monogenic diabetes that presents in the first 6 months of life. Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the ATP-sensitive potassium (K(ATP) ) channel can lead to transient NDM (TNDM) or to permanent NDM (PNDM). A f...

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Detalles Bibliográficos
Autores principales: Gole, Evangelia, Oikonomou, Stavroula, Ellard, Sian, De Franco, Elisa, Karavanaki, Kyriaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985388/
https://www.ncbi.nlm.nih.gov/pubmed/28943514
http://dx.doi.org/10.4274/jcrpe.5166

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985388/
https://www.ncbi.nlm.nih.gov/pubmed/28943514
http://dx.doi.org/10.4274/jcrpe.5166

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