VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function

Mutations in VPS33B and VIPAS39 cause the severe multisystem disorder Arthrogryposis, Renal dysfunction and Cholestasis (ARC) syndrome. Amongst other symptoms, patients with ARC syndrome suffer from severe ichthyosis. Roles for VPS33B and VIPAR have been reported in lysosome-related organelle biogen...

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Detalles Bibliográficos
Autores principales: Rogerson, Clare, Gissen, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Pub. Co 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5906731/
https://www.ncbi.nlm.nih.gov/pubmed/29409756
http://dx.doi.org/10.1016/j.bbadis.2018.01.028

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5906731/
https://www.ncbi.nlm.nih.gov/pubmed/29409756
http://dx.doi.org/10.1016/j.bbadis.2018.01.028

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