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Article

Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.

Bone - 1 Jul 2004

Good David A, Busfield Frances, Fletcher Barbara H, Lovelock Paul K, Duffy David L, Kesting Janine B, Andersen John, Shaw Joanne T E

Abstract excerpt

We have conducted a genome-wide scan on a pedigree containing 372 adult members, of whom 49 have PDB. In the present study, we report linkage of a large pedigree to the PDB3 region on chromosome 5q35-qter with a peak multipoint LOD score of 6.77. Sequestosome 1 (SQSTM/p62) has been identified as the causative PDB gene in this region. Six sequestosome 1 mutations have been described to date. Four mutations have...

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Source

Identifiers

PMID: 15207768
DOI: 10.1016/j.bone.2004.01.010

Genes

SQSTM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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