Characterization of a New CDC73 Missense Mutation that Impairs Parafibromin Expression and Nucleolar Localization

Mutations of the Cell Division Cycle 73 (CDC73) tumor suppressor gene (previously known as HRPT2), encoding for parafibromin, are associated with the Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome, an autosomal dominant disease whose clinical manifestations are mainly parathyroid tumors and, less f...

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Detalles Bibliográficos
Autores principales: Masi, Giulia, Iacobone, Maurizio, Sinigaglia, Alessandro, Mantelli, Barbara, Pennelli, Gianmaria, Castagliuolo, Ignazio, Palù, Giorgio, Barzon, Luisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026411/
https://www.ncbi.nlm.nih.gov/pubmed/24842573
http://dx.doi.org/10.1371/journal.pone.0097994

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026411/
https://www.ncbi.nlm.nih.gov/pubmed/24842573
http://dx.doi.org/10.1371/journal.pone.0097994

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