Expression pattern in retinal photoreceptors of POMGnT1, a protein involved in muscle-eye-brain disease

PURPOSE: The POMGNT1 gene, encoding protein O-linked-mannose β-1,2-N-acetylglucosaminyltransferase 1, is associated with muscle-eye-brain disease (MEB) and other dystroglycanopathies. This gene’s lack of function or expression causes hypoglycosylation of α-dystroglycan (α-DG) in the muscle and the c...

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Detalles Bibliográficos
Autores principales: Uribe, Mary Luz, Haro, Carmen, Ventero, María Paz, Campello, Laura, Cruces, Jesús, Martín-Nieto, José
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911909/
https://www.ncbi.nlm.nih.gov/pubmed/27375352

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911909/
https://www.ncbi.nlm.nih.gov/pubmed/27375352

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