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A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.

Abstract:

BACKGROUND: ATP-sensitive potassium (KATP) channels are major regulators of glucose-induced insulin secretion in pancreatic beta cells. We have described a dominant heterozygous mutation--E1506K--in the sulfonylurea receptor 1 (SUR1) gene (ABCC8) in a Finnish family, which leads to congenital hyperinsulinaemia due to reduction of K(ATP)-channel activity. We aimed to characterise glucose metabolism in adults heterozygous for the E1506K mutation. METHODS: Glucose tolerance was assessed by an o...

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Publication status:
Published

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Authors


Otonkoski, T More by this author
Vauhkonen, I More by this author
Reimann, F More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Physiology Anatomy and Genetics
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Journal:
Lancet
Volume:
361
Issue:
9354
Pages:
301-307
Publication date:
2003-01-05
DOI:
EISSN:
1474-547X
ISSN:
0140-6736
URN:
uuid:4e81d0c3-6ccf-4723-bc5d-37824409615b
Source identifiers:
114596
Local pid:
pubs:114596

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