Evaluation of the Role of the SQSTM1 Gene in Sporadic Belgian Patients with Paget’s Disease

@article{Beyens2004EvaluationOT,
  title={Evaluation of the Role of the SQSTM1 Gene in Sporadic Belgian Patients with Paget’s Disease},
  author={Greet Beyens and Els van Hul and Karolien Van Driessche and Erik Frans{\'e}n and J. -P. Devogelaer and Filip M. Vanhoenacker and J. F. Van Offel and Leon A. Verbruggen and Luc S. De Clerck and Ren{\'e} Westhovens and Wim van Hul},
  journal={Calcified Tissue International},
  year={2004},
  volume={75},
  pages={144-152}
}
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 collection of isolated Belgian PDB patients. A mutation in the SQSTM1 gene was found… CONTINUE READING
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