Mutation Update for GNE Gene Variants Associated with GNE Myopathy

The GNE gene encodes the rate-limiting, bifunctional enzyme of sialic acid biosynthesis, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). Biallelic GNE mutations underlie GNE myopathy, an adult-onset progressive myopathy. GNE myopathy-associated GNE mutations are predominantly m...

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Detalhes bibliográficos
Main Authors: Celeste, Frank V., Vilboux, Thierry, Ciccone, Carla, de Dios, John Karl, Malicdan, May Christine V., Leoyklang, Petcharat, McKew, John C., Gahl, William A., Carrillo-Carrasco, Nuria, Huizing, Marjan
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4172345/
https://ncbi.nlm.nih.gov/pubmed/24796702
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22583
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