Allelic Imbalance in TOR1A mRNA Expression in Manifesting and Non-Manifesting Carriers of the GAG-Deletion

Early onset dystonia (EOD) is associated with a 3bp-(ΔGAG) in-frame deletion in the TOR1A gene, which encodes for torsinA. Carriers of the mutant (ΔGAG) allele can either develop or escape a dystonic phenotype (~30% penetrance). The expression ratio of the two alleles could be important for the mani...

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Detalles Bibliográficos
Autores principales: Armata, Ioanna A., Diplas, Andreas I., Ozelius, Laurie J., Shashidharan, Pullanipally
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439987/
https://www.ncbi.nlm.nih.gov/pubmed/22988486
http://dx.doi.org/10.1155/2012/985260

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