Permanent Neonatal Diabetes Caused by Dominant, Recessive, or Compound Heterozygous SUR1 Mutations with Opposite Functional Effects

Heterozygous activating mutations in the KCNJ11 gene encoding the pore-forming Kir6.2 subunit of the pancreatic beta cell K(ATP) channel are the most common cause of permanent neonatal diabetes (PNDM). Patients with PNDM due to a heterozygous activating mutation in the ABCC8 gene encoding the SUR1 r...

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Autores principales: Ellard, Sian , Flanagan, Sarah E. , Girard, Christophe A. , Patch, Ann-Marie , Harries, Lorna W. , Parrish, Andrew , Edghill, Emma L. , Mackay, Deborah J. G. , Proks, Peter , Shimomura, Kenju , Haberland, Holger , Carson, Dennis J. , Shield, Julian P. H. , Hattersley, Andrew T. , Ashcroft, Frances M. 
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Human Genetics 2007
Materias:
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950816/
https://ncbi.nlm.nih.gov/pubmed/17668386
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