The (CAG)n tract of Machado-Joseph Disease gene (ATXN3): a comparison between DNA and mRNA in patients and controls

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder of late onset (occurring at a mean age of 40.2 years). The clinical manifestation of MJD is dependent on the presence of an expansion of the (CAG)(n) motif within exon 10 of the ATXN3 gene, located at 14q32.1. The varia...

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Bibliographic Details
Main Author: Bettencourt, Conceição (author)
Other Authors: Santos, Cristina (author), Montiel, Rafael (author), Kay, Teresa (author), Vasconcelos, João (author), Maciel, P. (author), Lima, Manuela (author)
Format: article
Language:eng
Published: 2010
Subjects:
Adult
Alleles
Ataxin-3
Case-Control studies
DNA
Gene expression regulation
Humans
Machado-Joseph disease
Nerve tissue proteins
Nuclear proteins
RNA, Messenger
Repressor proteins
Trinucleotide repeat expansion
MJD
SCA3
CAG repeats
transcript variation
polyglutamine disorders
Science & Technology
Online Access:http://hdl.handle.net/1822/67528
Country:Portugal
Oai:oai:repositorium.sdum.uminho.pt:1822/67528

Internet

http://hdl.handle.net/1822/67528

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