@article{76504ad26abe454ca2d9eddbed9b4e08,
title = "Novel UBA Domain Mutations of SQSTM1 in Paget's Disease of Bone : Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences",
abstract = "Three novel missense mutations of SQSTM1 were identified in familial PDB, all affecting the UBA domain. Functional and structural analysis showed that disease severity was related to the type of mutation but was unrelated to the polyubiquitin-binding properties of the mutant UBA domain peptides.",
author = "L.J. Hocking and G.J.A. Lucas and A. Daroszewska and T. Cundy and G.C. Nicholson and J. Donath and John Walsh and C. Finlayson and J.R. Cavey and B. Ciani and P.W. Sheppard and M.S. Searle and R. Layfield and S.H. Ralston",
year = "2004",
doi = "10.1359/JBMR.0403015",
language = "English",
volume = "19",
pages = "1122--1127",
journal = "Journal of Bone and Mineral Research",
issn = "0884-0431",
publisher = "John Wiley & Sons",
number = "7",
}