Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase

Peters Plus Syndrome (PTRPLS OMIM #261540) is a severe congenital disorder of glycosylation where patients have multiple structural anomalies, including Peters anomaly of the eye (anterior segment dysgenesis), disproportionate short stature, brachydactyly, dysmorphic facial features, developmental d...

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Detalles Bibliográficos
Autores principales: Zhang, Ao, Venkat, Aarya, Taujale, Rahil, Mull, James L., Ito, Atsuko, Kannan, Natarajan, Haltiwanger, Robert S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233153/
https://www.ncbi.nlm.nih.gov/pubmed/34058199
http://dx.doi.org/10.1016/j.jbc.2021.100843

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8233153/
https://www.ncbi.nlm.nih.gov/pubmed/34058199
http://dx.doi.org/10.1016/j.jbc.2021.100843

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