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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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| Publié dans: | Mol Vis |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Molecular Vision
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4911909/ https://ncbi.nlm.nih.gov/pubmed/27375352 |
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