- 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
- Publisher copy:
- 10.1038/ng0297-197
-
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- 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
- Copyright date:
- 1997
Journal article
Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation.
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