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Article

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2006

Morissette Jean, Laurin Nancy, Brown Jacques P

Abstract excerpt

UNLABELLED: Mutations of the SQSTM1/p62 gene are commonly observed in PDB. Screening an updated sample from Quebec and using previously published data from other populations, we compared frequency estimates for SQSTM1/p62 mutations and haplotype distribution. The P392L mutation was the most prevalent, embedded in two different haplotypes, possibly shared by other populations. We also examined the phenotype and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17229007
DOI: 10.1359/jbmr.06s207

Genes

SQSTM1

Variants

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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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Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.PMID 17229007Read ↗

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 ↗

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

Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.Semantic proximity Read ↗

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

Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.Semantic proximity Read ↗

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.Semantic proximity Read ↗

Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.Semantic proximity Read ↗

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Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone.Semantic proximity Read ↗

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