Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy

BACKGROUND: GNE myopathy is a rare genetic disease characterized by progressive muscle atrophy and weakness. It is caused by biallelic mutations in the GNE gene that encodes for the bifunctional enzyme, uridine diphosphate (UDP)‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) k...

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Detalles Bibliográficos
Autores principales: Garland, Jennifer, Stephen, Joshi, Class, Bradley, Gruber, Angela, Ciccone, Carla, Poliak, Aaron, Hayes, Christina P., Singhal, Vandana, Slota, Christina, Perreault, John, Gavrilova, Ralitza, Shrader, Joseph A., Chittiboina, Prashant, Joe, Galen, Heiss, John, Gahl, William A., Huizing, Marjan, Carrillo, Nuria, Malicdan, May Christine V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511805/
https://www.ncbi.nlm.nih.gov/pubmed/28717665
http://dx.doi.org/10.1002/mgg3.300

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