Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
Shimomura K, Girard CA, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, Ashcroft FM.
Diabetes. 2006 Jun;55(6):1705-12. Erratum in: Diabetes. 2007 Mar;56(3):897. Hattersely, Andrew T [corrected to Hattersley, Andrew T]. PMID: 16731833 [PubMed - indexed for MEDLINE]Related articlesFree article