An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD), a late onset disorder affecting specific skeletal muscles, is caused by a (GCG)(n) expansion mutation in the gene encoding the mRNA processing protein, polyadenylate binding protein nuclear 1 (PABPN1). The expansion in PABPN1 leads to an increas...

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Bibliografske podrobnosti
izdano v:J Neuromuscul Dis
Main Authors: Vest, Katherine E., Apponi, Luciano H., Banerjee, Ayan, Pavlath, Grace K., Corbett, Anita H.
Format: Artigo
Jezik:Inglês
Izdano: IOS Press 2015
Teme:
Research Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5207656/
https://ncbi.nlm.nih.gov/pubmed/27858752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-150111
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