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Article

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.

American journal of human genetics - 1 Jun 2002

Laurin Nancy, Brown Jacques P, Morissette Jean, Raymond Vincent

Abstract excerpt

Paget disease of bone (PDB) is a common disorder characterized by focal and disorganized increases of bone turnover. Genetic factors are important in the pathogenesis of PDB. We and others recently mapped the third locus associated with the disorder, PDB3, at 5q35-qter. In the present study, by use of 24 French Canadian families and 112 unrelated subjects with PDB, the PDB3 locus was confined to approximately 300...

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Source

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Identifiers

PMID: 11992264
DOI: 10.1086/340731
PMCID: PMC379146

Genes

SQSTM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.PMID 11992264Read ↗

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