Article
Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Nov 2010
Visconti Micaela Rios, Langston Anne L, Alonso Nerea, Goodman Kirsteen, Selby Peter L, Fraser William D, Ralston Stuart H
Abstract excerpt
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% of patients. Here we investigated the relationship between SQSTM1 mutation status, disease severity, and clinical outcome in 737...
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