Coincidence of a Novel KCNJ11 Missense Variant R365H With a Paternally Inherited 6q24 Duplication in a Patient With Transient Neonatal Diabetes

OBJECTIVE—Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of the ATP-sensitive K(+) channel subunits; in transient neonatal diabetes, chromosome 6q24 abnormalities...

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Detalhes bibliográficos
Main Authors: Staník, Juraj, Lethby, Mark, Flanagan, Sarah E., Gašperíková, Daniela, Milošovičová, Beata, Lever, Margaret, Bullman, Hilary, Zubcevic, Lejla, Hattersley, Andrew T., Ellard, Sian, Ashcroft, Frances M., Klimeš, Iwar
Formato: Artigo
Idioma:Inglês
Publicado em: American Diabetes Association 2008
Assuntos:
Clinical Care/Education/Nutrition/Psychosocial Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2518334/
https://ncbi.nlm.nih.gov/pubmed/18556340
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/dc08-0549
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