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

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 and Ralston, Stuart H (2005) 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, 20 (2). pp. 227-231. ISSN 1523-4681

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Abstract

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.

Item Type:	Article
Uncontrolled Keywords:	3' untranslated regions,adaptor proteins, signal transducing,alleles,dna primers,exons,female,founder effect,genotype,great britain,haplotypes,humans,introns,male,models, genetic,mutation,odds ratio,osteitis deformans,polymorphism, genetic,polymorphism, single nucleotide,promoter regions, genetic,protein structure, tertiary,proteins,software,ubiquitin
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School Faculty of Arts and Humanities > School of American Studies (former - to 2014)
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Groups > Musculoskeletal Medicine Faculty of Medicine and Health Sciences > Research Centres > Metabolic Health
Depositing User:	Rhiannon Harvey
Date Deposited:	08 Jun 2011 12:03
Last Modified:	19 Oct 2023 00:57
URI:	https://ueaeprints.uea.ac.uk/id/eprint/32041
DOI:	10.1359/JBMR.041106

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