Journal article
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.
- Abstract:
-
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, which could have been diagnosed as type 1 diabetes. We hypothesized that KCNJ11 mutations could present clinically as type 1 diabetes. We screened the KCNJ11 gene for mutations in 77 U.K. type 1 diab...
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- Publisher copy:
- 10.2337/diabetes.53.11.2998
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Authors
Bibliographic Details
- Journal:
- Diabetes
- Volume:
- 53
- Issue:
- 11
- Pages:
- 2998-3001
- Publication date:
- 2004-11-01
- DOI:
- EISSN:
-
1939-327X
- ISSN:
-
0012-1797
- Source identifiers:
-
14896
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:14896
- UUID:
-
uuid:ba8d19e3-4c35-43b4-a731-448e97b95b9a
- Local pid:
- pubs:14896
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2004
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