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Autor:
Sarah L. Rea, B. Kevin Park, Christopher E. Goldring, Jed Long, Mark S. Searle, Andrew J. Bennett, Alice Goode, Thomas Ratajczak, Tao Wright, Ian M. Copple, Robert Layfield
Publikováno v:
Bone. 52:699-706
Mutations affecting the Sequestosome 1 (SQSTM1) gene commonly occur in patients with the skeletal disorder Paget's disease of bone (PDB), a condition characterised by defective osteoclast differentiation and function. Whilst most mutations cluster wi