Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

Authors :: Ellard, Sian
Parrish, Andrew
Edghill, Emma L.
Girard, Christophe A.
Flanagan, Sarah E.
Patch, Ann-Marie
Harries, Lorna W.
Mackey, Deborah J.G.
Proks, Peter
Shimomura, Kenju
Haberland, Holger
Shield, Julian P.H.
Hattersley, Andrew T.
Ashcroft, Frances M.
Carson, Dennis J.
Source :: American Journal of Human Genetics. August, 2007, Vol. 81 Issue 2, p375, 8 p.
Publication Year :: 2007
Abstract: The article describes about the active mutations that are heterozygous in the KCNJ11 gene encodes pore-forming Kir6.2 subunits of the pancreatic beta cell [K.sub.ATP] channel are the most common cause of permanent neonatal diabetes (PNDM).

Subjects :: Gene mutations -- Research
Genetic code -- Research
Diabetes in children -- Causes of
Pancreatic beta cells -- Research
Biological sciences

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