Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family

Mutations of the p62/Sequestosome 1 gene (p62/SQSTM1) account for both sporadic and familial forms of Paget's disease of bone (PDB). We originally described a methionine→valine substitution at codon 404 (M404V) of exon 8, in the ubiquitin protein-binding domain of p62/SQSTM1 gene in an Italian...

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Détails bibliographiques
Auteurs principaux: Falchetti, Alberto, Di Stefano, Marco, Marini, Francesca, Del Monte, Francesca, Gozzini, Alessia, Masi, Laura, Tanini, Annalisa, Amedei, Antonietta, Carossino, Annamaria, Isaia, Giancarlo, Brandi, Maria Luisa
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2005
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1297578/
https://ncbi.nlm.nih.gov/pubmed/16277682
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/ar1828
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