Article
Genetic aspects of the Paget's disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its application.
European journal of clinical investigation - 1 Jul 2010
Falchetti Alberto, Alberto Falchetti, Marini Francesca, Francesca Marini, Masi Laura, Laura Masi, Amedei Antonietta, Antonietta Amedei, Brandi Maria Luisa, Luisa Brandi Maria
Abstract excerpt
BACKGROUND: A large amount of genetic studies have clearly demonstrated the existence of a genetic susceptibility to Paget's disease of bone (PDB). Although the disease is genetically heterogeneous, the SQSTM1/p62 gene, encoding a protein with a pathophysiological role in both osteoclast differentiation and activity, has been found worldwide to harbour germline mutations in most of the PDB patients from...
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