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Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.
Rea SL, Walsh JP, Ward L, Magno AL, Ward BK, Shaw B, Layfield R, Kent GN, Xu J, Ratajczak T. Rea SL, et al. J Bone Miner Res. 2009 Jul;24(7):1216-23. doi: 10.1359/jbmr.090214. J Bone Miner Res. 2009. PMID: 19257822 Free article.
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