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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Опубликовано в: :PLoS One
Главные авторы: Silva, Iris A. L., Conceição, Natércia, Gagnon, Édith, Brown, Jacques P., Cancela, M. Leonor, Michou, Laëtitia
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2018
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Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5962077/
https://ncbi.nlm.nih.gov/pubmed/29782529
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0197543
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