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Article

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

Human molecular genetics - 15 Oct 2002

Hocking Lynne J, Lucas Gavin J A, Daroszewska Anna, Mangion Jon, Olavesen Mark, Cundy Tim, Nicholson Geoff C, Ward Lynley, Bennett Simon T, Wuyts Wim, Van Hul Wim, Ralston Stuart H

Abstract excerpt

Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of increased and disorganized bone turnover. Genetic factors are important in the pathogenesis of PDB, and in previous studies, we and others identified a locus for familial PDB by genome-wide search on 5q35-q...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12374763
DOI: 10.1093/hmg/11.22.2735

Genes

SQSTM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12374763-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.PMID 12374763Read ↗

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