Familial Paget's disease in The Netherlands: Occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations
Abstract Objective To estimate the occurrence of familial Paget's disease of bone in The Netherlands, to examine the prevalence of mutations of the sequestosome 1 gene ( SQSTM1 ) in identified families, and to assess potential genotype–phenotype associations. Methods We performed a case–control study of patients with Paget's disease and a mutation analysis of the SQSTM1 gene of index patients with familial disease and of the relatives of those with a mutation. Serum alkaline phosphatase (AP) activity was assessed, and bone scintigraphy was performed. Results Five percent of patients had at lea... Mehr ...
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Dokumenttyp: | Artikel |
Erscheinungsdatum: | 2004 |
Reihe/Periodikum: | Arthritis & Rheumatism ; volume 50, issue 5, page 1650-1654 ; ISSN 0004-3591 1529-0131 |
Verlag/Hrsg.: |
Wiley
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Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28808126 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://dx.doi.org/10.1002/art.20224 |