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Article

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

Bone - 1 Mar 2011

Michou Laëtitia, Morissette Jean, Gagnon Edith R, Marquis Anik, Dellabadia Maryann, Brown Jacques P, Siris Ethel S

Abstract excerpt

More than 20 mutations of the Sequestosome 1 (SQSTM1) gene have been reported in patients of European descent affected by Paget's disease of bone (PDB). In this investigation, a systematic screening for SQSTM1 mutations was conducted in consecutively evaluated unrelated patients with phenotypical PDB living in the New York City area (NY, United States). Seventy unrelated PDB patients with a multiethnic...

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Source

Identifiers

PMID: 21073987
DOI: 10.1016/j.bone.2010.11.004

Genes

SQSTM1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.PMID 21073987Read ↗

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

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

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