Refining the phenotype of common mutations in Rett syndrome. Issue 1 (16th January 2004)
- Record Type:
- Journal Article
- Title:
- Refining the phenotype of common mutations in Rett syndrome. Issue 1 (16th January 2004)
- Main Title:
- Refining the phenotype of common mutations in Rett syndrome
- Authors:
- Colvin, L
Leonard, H
de Klerk, N
Davis, M
Weaving, L
Williamson, S
Christodoulou, J - Abstract:
- Is Part Of:
- Journal of medical genetics. Volume 41:Issue 1(2004)
- Journal:
- Journal of medical genetics
- Issue:
- Volume 41:Issue 1(2004)
- Issue Display:
- Volume 41, Issue 1 (2004)
- Year:
- 2004
- Volume:
- 41
- Issue:
- 1
- Issue Sort Value:
- 2004-0041-0001-0000
- Page Start:
- 25
- Page End:
- 30
- Publication Date:
- 2004-01-16
- Subjects:
- ARSD, Australian Rett syndrome database -- DHPLC, denaturing high performance liquid chromatography -- MBD, methyl-CpG-binding domain -- NLS, nuclear localisation signal -- TRD, transcription repression domain -- XCI, X chromosome inactivation
MECP2 mutation -- Rett syndrome -- population based register
Medical genetics -- Periodicals
616.042 - Journal URLs:
- http://jmg.bmjjournals.com/ ↗
http://www.bmj.com/archive ↗ - DOI:
- 10.1136/jmg.2003.011130 ↗
- Languages:
- English
- ISSNs:
- 1468-6244
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 17773.xml