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SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

✍ Scribed by Rea, Sarah L.; Majcher, Veronika; Searle, Mark S.; Layfield, Rob


Book ID
123092979
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
930 KB
Volume
325
Category
Article
ISSN
0014-4827

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Mutations of SQSTM1 are associated with
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## Abstract Paget disease of bone (PDB) is a common disorder characterized by increased bone turnover at one of more sites throughout the skeleton. Genetic factors play an important role in the pathogenesis of PDB, and the most important predisposing gene is __SQSTM1__, which is mutated in about 10