Journal
JOURNAL OF BONE AND MINERAL RESEARCH
Volume 22, Issue 2, Pages 310-317Publisher
AMER SOC BONE & MINERAL RES
DOI: 10.1359/JBMR.061106
Keywords
Paget's disease; gene/genetic research; population studies
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Mutation screening of the SQSTM1 gene in 94 French patients with PDB revealed two novel point-mutations (A381V and L413F) and two new compound heterozygous genotypes (P392L/A381V and P392L/A390X). Functional analysis showed an increased level of SQSTM1/p62 protein in PDB patients and truncated forms of the protein encoded by the A390X allele. Clinical data indicate that PDB patients with SQSTM1 mutation are younger at PDB diagnosis and have more extensive bone lesions.
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