Article
Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.
Calcified tissue international - 1 Apr 2008
Rhodes Emily C, Johnson-Pais Teresa L, Singer Frederick R, Ankerst Donna P, Bruder Jan M, Wisdom Julie, Hoon Dave S B, Lin Emerald, Bone Henry G, Simcic Kenneth J, Leach Robin J
Abstract excerpt
Paget's disease of bone (PDB) is a localized bone disease characterized by excessive bone resorption due to overactive osteoclasts. Seven genetic loci (PDB1-PDB7) have been reported for late-onset PDB. PDB3 is the only locus where a gene, sequestosome 1 (SQSTM1), has been identified. Mutations in SQSTM1 have been associated with both sporadic and hereditary PDB in different populations. However, the SQSTM1...
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