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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Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
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Original Articles
Online Zugang: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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