SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

doi:10.1002/jbmr.31

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Article

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jun 2010

Gennari Luigi, Gianfrancesco Fernando, Di Stefano Marco, Rendina Domenico, Merlotti Daniela, Esposito Teresa, Gallone Salvatore, Fusco Pina, Rainero Innocenzo, Fenoglio Pierpaola, Mancini Maria, Martini Giuseppe, Bergui Simona, De Filippo Gianpaolo, Isaia Giancarlo, Strazzullo Pasquale, Nuti Ranuccio, Mossetti Giuseppe

Abstract excerpt

Even though SQSTM1 gene mutations have been identified in a consistent number of patients, the etiology of Paget's disease of bone (PDB) remains in part unknown. In this study we analyzed SQSTM1 mutations in 533 of 608 consecutive PDB patients from several regions, including the high-prevalence area of Campania (also characterized by increased severity of PDB, higher number of familial cases, and peculiar...

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PMID: 20200946
DOI: 10.1002/jbmr.31

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SQSTM1

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