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...

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Detalles Bibliográficos
Autores principales: Hyde, Lillian F., Kong, Yang, Zhao, Lihong, Rao, Sriganesh Ramachandra, Wang, Jieping, Stone, Lisa, Njaa, Andrew, Collin, Gayle B., Krebs, Mark P., Chang, Bo, Fliesler, Steven J., Nishina, Patsy M., Naggert, Jürgen K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570038/
https://www.ncbi.nlm.nih.gov/pubmed/36233305
http://dx.doi.org/10.3390/ijms231912005

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