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VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions

The von Hippel–Lindau (VHL) disease is an autosomal dominant cancer syndrome caused by mutations in the VHL tumor suppressor gene. VHL protein (pVHL) forms a complex (VBC) with Elongins B-C, Cullin2, and Rbx1. Although other functions have been discovered, the most described function of pVHL is to r...

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Detalles Bibliográficos
Autores principales:	Mathó, Cecilia, Fernández, María Celia, Bonanata, Jenner, Liu, Xian-De, Martin, Ayelen, Vieites, Ana, Sansó, Gabriela, Barontini, Marta, Jonasch, Eric, Coitiño, E. Laura, Pennisi, Patricia Alejandra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978939/ https://www.ncbi.nlm.nih.gov/pubmed/35388293 http://dx.doi.org/10.3389/fendo.2022.854365

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