Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability

Mutations in glucokinase (GCK) cause a spectrum of glycemic disorders. Heterozygous loss-of-function mutations cause mild fasting hyperglycemia irrespective of mutation severity due to compensation from the unaffected allele. Conversely, homozygous loss-of-function mutations cause permanent neonatal...

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Autores principales: Raimondo, Anne, Chakera, Ali J., Thomsen, Soren K., Colclough, Kevin, Barrett, Amy, De Franco, Elisa, Chatelas, Alisson, Demirbilek, Huseyin, Akcay, Teoman, Alawneh, Hussein, Flanagan, Sarah E., Van De Bunt, Martijn, Hattersley, Andrew T., Gloyn, Anna L., Ellard, Sian, Abduljabbar, Mohammad A., Al-Zyoud, Mahmoud, Aman, Syed, Bath, Louise, De, Parijat, Deshpande, Neeta, Durmaz, Erdem, Eickmeier, Frank, Elbarbary, Nancy Samir, Fillion, Marc, Jagadeesh, Sujatha M., Kershaw, Melanie, Khan, Waqas I., Mlynarski, Wojciech, Noyes, Kathryn, Peters, Catherine J., Shaw, Nick, Tiron, Irina, Turkkahraman, Doga, Turner, Lesley, Eltonbary, Khadiga Y., Yuksel, Bilgin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
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Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240195/
https://www.ncbi.nlm.nih.gov/pubmed/25015100
http://dx.doi.org/10.1093/hmg/ddu360

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