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...
Expand abstract
- Publication status:
- Published
Actions
Access Document
- Publisher copy:
- 10.1210/jc.2006-2817
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Bibliographic Details
- Journal:
- Journal of clinical endocrinology and metabolism
- Volume:
- 92
- Issue:
- 5
- Pages:
- 1773-1777
- Publication date:
- 2007-05-01
- DOI:
- EISSN:
-
1945-7197
- ISSN:
-
0021-972X
- Source identifiers:
-
2830
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:2830
- UUID:
-
uuid:42eac86e-2806-450c-a9fe-ccbf649ebe5e
- Local pid:
- pubs:2830
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2007
If you are the owner of this record, you can report an update to it here: Report update to this record