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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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Publicado en:Mol Vis
Main Authors: Uribe, Mary Luz, Haro, Carmen, Ventero, María Paz, Campello, Laura, Cruces, Jesús, Martín-Nieto, José
Formato: Artigo
Idioma:Inglês
Publicado: Molecular Vision 2016
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4911909/
https://ncbi.nlm.nih.gov/pubmed/27375352
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