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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5511805/
https://ncbi.nlm.nih.gov/pubmed/28717665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.300
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