Article
Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.
Calcified tissue international - 1 Jul 2008
Chung Pui Yan Jenny, Beyens Greet, Guañabens Núria, Boonen Steven, Papapoulos Socrates, Karperien Marcel, Eekhoff Marelise, Van Wesenbeeck Liesbeth, Jennes Karen, Geusens Piet, Offeciers Erwin, Van Offel Jan, Westhovens Rene, Zmierczak Hans, Devogelaer Jean-Pierre, Van Hul Wim
Abstract excerpt
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-->...
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