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Molecular effect of an OPTN common variant associated to Paget's disease of bone

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 se...

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Detalles Bibliográficos
Autores principales: Silva, Iris A. L., Conceição, Natércia, Gagnon, Édith, Brown, Jacques P., Cancela, M. Leonor, Michou, Laëtitia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962077/
https://www.ncbi.nlm.nih.gov/pubmed/29782529
http://dx.doi.org/10.1371/journal.pone.0197543