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Journal article

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Abstract:

CONTEXT: Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known. OBJECTIVE: Our objective was to determine the parental origin of de novo KCNJ11 mutations and investigate the possibility of mosaicism in transmitting parents. DESIGN: We identified 68 index cases with a KCNJ1...

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Publication status:
Published

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Publisher copy:
10.1210/jc.2006-2817

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, OCDEM
Role:
Author
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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
92
Issue:
5
Pages:
1773-1777
Publication date:
2007-05-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:42eac86e-2806-450c-a9fe-ccbf649ebe5e
Source identifiers:
2830
Local pid:
pubs:2830

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