Article
Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.
Calcified tissue international - 1 Aug 2004
Beyens G, Van Hul E, Van Driessche K, Fransen E, Devogelaer J-P, Vanhoenacker F, Van Offel J, Verbruggen L, De Clerck L, Westhovens R, Van Hul W
Abstract excerpt
A positional cloning effort in French Canadian families with Paget's disease of bone (PDB) resulted in the identification of a mutation in the sequestosome1 (SQSTM1) gene in a subset of both familial and sporadic PDB cases. This was confirmed in samples of mainly United Kingdom (UK) origin. In this study, we performed both mutation analysis and association studies in order to evaluate the role of this gene in a...
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