Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies

The GNE-associated V727M mutation is one of the most prevalent ethnic founder mutations in the Asian HIBM cohort; however, its role in inducing disease phenotype remains largely elusive. In this study, the function of this hotspot mutation was profoundly investigated. For this, V727M mutation-specif...

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Detalles Bibliográficos
Autores principales: Attri, Shivangi, Lone, Moien, Katiyar, Amit, Sharma, Vikas, Kumar, Vinay, Verma, Chaitenya, Gahlawat, Suresh Kumar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048522/
https://www.ncbi.nlm.nih.gov/pubmed/36980840
http://dx.doi.org/10.3390/genes14030567

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