Characterization of a new CDC73 missense mutation that impairs Parafibromin expression and nucleolar localization.

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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Bibliographic Details
Main Authors: Giulia Masi, Maurizio Iacobone, Alessandro Sinigaglia, Barbara Mantelli, Gianmaria Pennelli, Ignazio Castagliuolo, Giorgio Palù, Luisa Barzon
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4026411?pdf=render

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http://europepmc.org/articles/PMC4026411?pdf=render

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