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Molecular test of Paget's disease of bone in families not linked to SQSTM1 gene mutations

PURPOSE: Paget's disease of bone (PDB) is a focal metabolic bone disorder characterized by an increased bone remodeling. Fifteen to 40 % of PDB patients have a familial form with an autosomal dominant inheritance. Disease-causing mutations of the SQSTM1 gene have been linked to PDB in about 40 ...

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Detalles Bibliográficos
Autores principales: You, Yang, Simonyan, David, Bureau, Alexandre, Gagnon, Edith, Albert, Caroline, Guertin, Jason R., Tarride, Jean-Eric, Brown, Jacques P., Michou, Laëtitia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10006713/
https://www.ncbi.nlm.nih.gov/pubmed/36915391
http://dx.doi.org/10.1016/j.bonr.2023.101670