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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Главные авторы: Masi, Giulia, Iacobone, Maurizio, Sinigaglia, Alessandro, Mantelli, Barbara, Pennelli, Gianmaria, Castagliuolo, Ignazio, Palù, Giorgio, Barzon, Luisa
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2014
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4026411/
https://ncbi.nlm.nih.gov/pubmed/24842573
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0097994
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