Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive K(+) channel (K(ATP) channel), are a common cause of neonatal diabetes. We identified a novel KCNJ11 mutation, R50Q, that causes permanent neonatal diabetes (PNDM) without neurological problems. W...

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Bibliographic Details
Main Authors:	Shimomura, K, Girard, C, Proks, P, Nazim, J, Lippiat, J, Cerutti, F, Lorini, R, Ellard, S, Hattersley, A, Barbetti, F, Ashcroft, F
Format:	Journal article
Language:	English
Published:	2006

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