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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...
Autores principales: | Rogerson, Clare, Gissen, Paul |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier Pub. Co
2018
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Materias: | |
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 |
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