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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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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
Diabetes
Volume:
53
Issue:
11
Pages:
2998-3001
Publication date:
2004-11-05
DOI:
EISSN:
1939-327X
ISSN:
0012-1797
URN:
uuid:ba8d19e3-4c35-43b4-a731-448e97b95b9a
Source identifiers:
14896
Local pid:
pubs:14896

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