Clinical phenotype of adult offspring carriers of the p.Pro392Leu mutation within the SQSTM1 gene in Paget's disease of bone
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DOI: 10.1016/j.bonr.2020.100717
Abstract: Paget's disease of bone (PDB) is a common chronic bone disorder. In the French-Canadian population, the p.Pro392Leu mutation within the SQSTM1 gene is involved in 46% of familial forms. In New Zealand, the emergence of… read more here.
Keywords: pro392leu mutation; offspring carriers; clinical phenotype; adult offspring ... See more keywords