Article
Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.
Human genetics - 1 Jan 2015
Guay-Bélanger Sabrina, Picard Sylvain, Gagnon Edith, Morissette Jean, Siris Ethel S, Orcel Philippe, Brown Jacques P, Michou Laëtitia
Abstract excerpt
Paget's disease of bone (PDB) is transmitted, in one-third of cases, in an autosomal dominant mode of inheritance with incomplete penetrance. The SQSTM1/P392L germinal mutation is the most common mutation associated with PDB. Given the focal nature of PDB, one team of investigators showed that SQSTM1/P392L somatic mutations could occur in pagetic bone lesions in the absence of germinal mutations detectable in the...
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