Journal article icon

Journal article

Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.

Abstract:

Six inherited neurodegenerative diseases are caused by a CAG/polyglutamine expansion, including spinal and bulbar muscular atrophy (SBMA), Huntington's disease (HD), spinocerebellar ataxia type 1 (SCA1), dentatorubral pallidoluysian atrophy (DRPLA) Machado-Joseph disease (MJD or SCA3) and SCA2. Normal and expanded HD allele sizes of 6-39 and 35-121 repeats have been reported, and the allele distributions for the other diseases are comparable. Intergenerational instability has been described i...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1038/ng0297-197

Authors


More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Medicine, WTC Human Genetics
Role:
Author
Expand authors...
Journal:
Nature genetics
Volume:
15
Issue:
2
Pages:
197-200
Publication date:
1997-02-05
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
URN:
uuid:c03ae7c0-40b6-4e46-b00f-fd1ba5ac5595
Source identifiers:
73836
Local pid:
pubs:73836

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP