Article
Development of a molecular test of Paget's disease of bone.
Bone - 1 Mar 2016
Guay-Bélanger Sabrina, Simonyan David, Bureau Alexandre, Gagnon Edith, Albert Caroline, Morissette Jean, Siris Ethel S, Orcel Philippe, Brown Jacques P, Michou Laëtitia
Abstract excerpt
Depending on populations, 15 to 40% of patients have a familial form of Paget's disease of bone (PDB), which is transmitted in an autosomal-dominant mode of inheritance with incomplete penetrance. To date, only SQSTM1 gene mutations have been linked to the disease. Several single nucleotide polymorphisms (SNPs) have been associated with PDB in patient non-carriers of SQSTM1 mutations, but they have minor size...
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