Article
Molecular effect of an OPTN common variant associated to Paget's disease of bone.
PloS one - 1 Jan 2018
Silva Iris A L, Conceição Natércia, Gagnon Édith, Brown Jacques P, Cancela M Leonor, Michou Laëtitia
Abstract excerpt
Paget's disease of bone (PDB) is a chronic bone disorder and although genetic factors appear to play an important role in its pathogenesis, to date PDB causing mutations were identified only in the Sequestosome 1 (SQSTM1) gene at the PDB3 locus. PDB6 locus, also previously linked to PDB, contains several candidate genes for metabolic bone diseases. We focused our analysis in the most significantly associated...
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