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.

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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Xehetasun bibliografikoak
Egile Nagusiak:	Edghill, E, Gloyn, A, Gillespie, K, Lambert, A, Raymond, N, Swift, P, Ellard, S, Gale, E, Hattersley, A
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2004

Antzeko izenburuak

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