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KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Abstract:

Permanent neonatal diabetes mellitus (PNDM) is a rare condition characterized by severe hyperglycemia constantly requiring insulin treatment from its onset. Complete deficiency of glucokinase (GCK) can cause PNDM; however, the genetic etiology is unknown in most PNDM patients. Recently, heterozygous activating mutations of KCNJ11, encoding Kir6.2, the pore forming subunit of the ATP-dependent potassium (K(ATP)) channel of the pancreatic beta-cell, were found in patients with PNDM. Closure of ...

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Publisher copy:
10.1002/humu.20124

Authors


Iafusco, D More by this author
D'Amato, E More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Hattersley, AT More by this author
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Journal:
Human mutation
Volume:
25
Issue:
1
Pages:
22-27
Publication date:
2005-01-05
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
URN:
uuid:ebeddb07-f346-4ce9-8b96-b3d2ea20fbc9
Source identifiers:
14349
Local pid:
pubs:14349

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