Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.

We have recently shown that permanent neonatal diabetes can be caused by activating mutations in KCNJ11 that encode the Kir6.2 subunit of the beta-cell ATP-sensitive K(+) channel. Some of these patients were diagnosed after 3 months of age and presented with ketoacidosis and marked hyperglycemia, wh...

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書誌詳細
主要な著者: Edghill, E, Gloyn, A, Gillespie, K, Lambert, A, Raymond, N, Swift, P, Ellard, S, Gale, E, Hattersley, A
フォーマット: Journal article
言語:English
出版事項: 2004

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