title: Detection of Exon 8 mutations in sqstm1/p62 gene by mutation-specific restriction enzyme digestion: a sensitive screening for Paget disease of bone.
authors.forename: S
authors.initials: S
authors.lastname: Gallone
authors.forename: M
authors.initials: M
authors.lastname: Di Stefano
authors.forename: I
authors.initials: I
authors.lastname: Rainero
authors.forename: P
authors.initials: P
authors.lastname: Fenoglio
authors.forename: E
authors.initials: E
authors.lastname: Gravante
authors.forename: S
authors.initials: S
authors.lastname: Incardona
authors.forename: P L
authors.initials: PL
authors.lastname: Acutis
authors.forename: M G
authors.initials: MG
authors.lastname: Maniaci
authors.forename: G C
authors.initials: GC
authors.lastname: Isaia
authors.forename: L
authors.initials: L
authors.lastname: Pinessi
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D004262:DNA Restriction Enzymes / Q000378:metabolism; D005091:Exons; D006801:Humans; D009154:Mutation; D010001:Osteitis Deformans / Q000175:diagnosis* / Q000235:genetics; D012680:Sensitivity and Specificity; D000071456:Sequestosome-1 Protein
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C099718:SQSTM1 protein, human; D000071456:Sequestosome-1 Protein; D004262:DNA Restriction Enzymes