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Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

Abstract:

Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the regulation of insulin secretion and has been termed the pancreatic beta-cell sensor. Given its central role in the regulation of insulin release, it is understandable that mutations in the gene encoding glucokinase (GCK) can cause both hyperglycemia and hypoglycemia. Heterozygous inactivating mutations in GCK cause maturity-onset diabetes of the young (MODY), characterized by mild hyperglycemia,...

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Publisher copy:
10.1002/humu.10277

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
Journal:
Human mutation
Volume:
22
Issue:
5
Pages:
353-362
Publication date:
2003-11-01
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Source identifiers:
158
Language:
English
Keywords:
Pubs id:
pubs:158
UUID:
uuid:c0aac4d6-a8e6-4f96-b659-ec51b0402d52
Local pid:
pubs:158
Deposit date:
2012-12-19

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