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Journal article

Relapsing diabetes can result from moderately activating mutations in KCNJ11.

Abstract:

Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensitive potassium channel (K(ATP)), are the commonest cause of permanent neonatal diabetes (PNDM). In addition to diabetes, some KCNJ11 mutations also result in marked developmental ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddi086

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
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Journal:
Human molecular genetics
Volume:
14
Issue:
7
Pages:
925-934
Publication date:
2005-04-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
16101

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