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A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis of lipid-linked oligosaccharides and their transfer to proteins. CDGs usually affect multiple organ systems and vary in presentation, even w...
| Autores principales: | , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570038/ https://www.ncbi.nlm.nih.gov/pubmed/36233305 http://dx.doi.org/10.3390/ijms231912005 |