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A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Abstract:

Neonatal diabetes is a genetically heterogeneous disorder with nine different genetic aetiologies reported to date. Heterozygous activating mutations in the KCNJ11 gene encoding Kir6.2, the pore-forming subunit of the ATP-sensitive potassium (K(ATP)) channel, are the most common cause of permanent neonatal diabetes. The sulphonylurea receptor (SUR) SUR1 serves as the regulatory subunit of the K(ATP) channel in pancreatic beta cells. We therefore hypothesized that activating mutations in the A...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddl101

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Journal:
Human molecular genetics More from this journal
Volume:
15
Issue:
11
Pages:
1793-1800
Publication date:
2006-06-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906

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