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Effective classification and gene expression profiling for the facioscapulohumeral muscular dystrophy

Autor
González, F.F.; Belanche, Ll.; Silva, K. A.
Tipus d'activitat
Article en revista
Revista
PloS one
Data de publicació
2013-12-13
Volum
8
Número
12
Pàgina inicial
e82071
DOI
https://doi.org/10.1371/journal.pone.0082071 Obrir en finestra nova
Repositori
http://hdl.handle.net/2117/23324 Obrir en finestra nova
URL
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0082071 Obrir en finestra nova
Resum
The Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant neuromuscular disorder whose incidence is estimated in about one in 400,000 to one in 20,000. No effective therapeutic strategies are known to halt progression or reverse muscle weakness and atrophy. It is known that the FSHD is caused by modifications located within a D4ZA repeat array in the chromosome 4q, while recent advances have linked these modifications to the DUX4 gene. Unfortunately, the complete mechanisms resp...
Citació
González, F.F.; Belanche, Ll.; Silva, K. A. Effective classification and gene expression profiling for the facioscapulohumeral muscular dystrophy. "PLoS One", 13 Desembre 2013, vol. 8, núm. 12.
Grup de recerca
IDEAI-UPC Intelligent Data Science and Artificial Intelligence
SOCO - Soft Computing

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