Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation...

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Detalles Bibliográficos
Autores principales: Pavlova, Elena V., Lev, Dorit, Michelson, Marina, Yosovich, Keren, Michaeli, Hila Gur, Bright, Nicholas A., Manna, Paul T., Dickson, Veronica Kane, Tylee, Karen L., Church, Heather J., Luzio, J. Paul, Cox, Timothy M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091966/
https://www.ncbi.nlm.nih.gov/pubmed/36153662
http://dx.doi.org/10.1002/humu.24479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10091966/
https://www.ncbi.nlm.nih.gov/pubmed/36153662
http://dx.doi.org/10.1002/humu.24479

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