Article
Effect of genetic variants of OPTN in the pathophysiology of Paget's disease of bone.
Biochimica et biophysica acta. Molecular basis of disease - 1 Jan 2018
Silva Iris A L, Conceição Natércia, Gagnon Édith, Caiado Helena, Brown Jacques P, Gianfrancesco Fernando, Michou Laëtitia, Cancela M Leonor
Abstract excerpt
Paget's disease of bone (PDB) is the second most frequent metabolic bone disease after osteoporosis. Genetic factors play an important role in PDB, but to date PDB causing mutations were identified only in the Sequestosome 1 gene at the PDB3 locus. OPTN has been recently associated with PDB, however little is known about the effect of genetic variants in this gene in PDB pathophysiology. By sequencing OPTN in...
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