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Article

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 2005

Lucas Gavin J A, Hocking Lynne J, Daroszewska Anna, Cundy Tim, Nicholson Geoff C, Walsh John P, Fraser William D, Meier Christian, Hooper Michael J, Ralston Stuart H

Abstract excerpt

UNLABELLED: Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin. INTRODUCTION: Paget's disease of bone (PDB) is a common condition with a strong genetic component. Mutations affecting the ubiquitin-associated (UBA)...

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Identifiers

PMID: 15647816
DOI: 10.1359/JBMR.041106

Genes

SQSTM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.PMID 15647816Read ↗

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Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).Semantic proximity Read ↗

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