Article
Genetic epidemiology of Paget's disease of bone in italy: sequestosome1/p62 gene mutational test and haplotype analysis at 5q35 in a large representative series of sporadic and familial Italian cases of Paget's disease of bone.
Calcified tissue international - 1 Jan 2009
Falchetti Alberto, Di Stefano Marco, Marini Francesca, Ortolani Sergio, Ulivieri Massimo Fabio, Bergui Simona, Masi Laura, Cepollaro Chiara, Benucci Maurizio, Di Munno Ombretta, Rossini Maurizio, Adami Silvano, Del Puente Antonio, Isaia Giancarlo, Torricelli Francesca, Brandi Maria Luisa
Abstract excerpt
Families affected by Paget's disease of bone frequently harbor mutations in the SQSTM1/p62 gene. In this multicentric study we collected 345 sporadic and 12 familial PDB cases throughout Italy, identifying 12 different mutations, 5 of which are newly reported and 3, D335E, A381V, and Y383X, external to the UBA domain. Subjects with truncating mutations, E396X, showed a significantly younger age at clinical...
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