Journal article
Characterization of transcription factor AP-2 β mutations involved in familial isolated patent ductus arteriosus suggests haploinsufficiency.
- Abstract:
-
BACKGROUND: Patent ductus arteriosus (PDA) is one of the most common congenital heart defects. Transcription factor AP-2 beta (TFAP2B) mutations are associated with the Char syndrome, a disorder associated with PDA, and with facial and fingers abnormalities. Recently, we identified two TFAP2B mutations in two families without Char syndrome phenotype, c.601+5G>A and c.435_438delCCGG, and these TFAP2B mutations were associated with familial isolated PDA. The aim of this study was to identify...
Expand abstract
- Publication status:
- Published
Actions
Access Document
- Publisher copy:
- 10.1016/j.jss.2014.01.015
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 surgical research
- Volume:
- 188
- Issue:
- 2
- Pages:
- 466-472
- Publication date:
- 2014-05-01
- DOI:
- EISSN:
-
1095-8673
- ISSN:
-
0022-4804
- Source identifiers:
-
449186
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:449186
- UUID:
-
uuid:0146c18f-4d8e-4143-bff0-505bc4862592
- Local pid:
- pubs:449186
- Deposit date:
- 2014-08-22
Terms of use
- Copyright date:
- 2014
If you are the owner of this record, you can report an update to it here: Report update to this record