Thesis
Molecular genetics of chorea-acanthocytosis
- Abstract:
-
Chorea-acanthocytosis (ChAc) is an autosomal recessive neurological disorder whose characteristic features include hyperkinetic movements and abnormal red blood cell morphology. The disorder shares features with Huntington's disease and McLeod syndrome (MLS), and can sometimes be difficult to distinguish clinically from the latter. In 1997, ChAc was linked to a 6-cM region on chromosome 9q21-22. A novel gene, >em>CHAC
, was identified in the critical region. CHAC (now re... Expand abstract
Actions
Access Document
- Files:
-
-
(pdf, 16.3MB)
-
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.
Bibliographic Details
- Publication date:
- 2004
- Type of award:
- DPhil
- Level of award:
- Doctoral
- Awarding institution:
- University of Oxford
- Source identifiers:
-
603826980
Item Description
- Language:
- English
- Subjects:
- UUID:
-
uuid:3992386d-7d0d-4b88-bcf6-7170e2ba98cc
- Local pid:
- td:603826980
- Deposit date:
- 2013-01-21
Terms of use
- Copyright holder:
- Dobson-Stone, Carol
- Copyright date:
- 2004
- Notes:
- The digital copy of this thesis has been made available thanks to the generosity of Dr Leonard Polonsky
If you are the owner of this record, you can report an update to it here: Report update to this record