Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone

@article{Chung2008FounderEI,
  title={Founder Effect in Different European Countries for the Recurrent P392L SQSTM1 Mutation in Paget’s Disease of Bone},
  author={Pui Yan Jenny Chung and Greet Beyens and N{\'u}ria Gua{\~n}abens and Steven Boonen and Socrates E Papapoulos and Marcel Karperien and Marelise E M W Eekhoff and Liesbeth Van Wesenbeeck and Karen Jennes and Piet P. Geusens and E Erwin Offeciers and J. F. Van Offel and Ren{\'e} Westhovens and Hans Zmierczak and J -P Devogelaer and Wim van Hul},
  journal={Calcified Tissue International},
  year={2008},
  volume={83},
  pages={34-42}
}
Paget’s Disease of Bone (PDB) is one of the most frequent metabolic bone diseases, affecting 1–5% of Western populations older than 55 years. Mutations in the sequestosome1 (SQSTM1) gene cause PDB in about one-third of familial PDB cases and in 2.4–9.3% of nonfamilial PDB cases, with the 1215C→T (P392L) mutation being the most frequent one. We investigated whether a founder effect of the P392L SQSTM1 mutation was present in Belgian (n = 233), Dutch (n = 82), and Spanish (n = 64) patients… CONTINUE READING

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