Article
Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.
Arthritis and rheumatism - 1 May 2004
Eekhoff E W M, Karperien M, Houtsma D, Zwinderman A H, Dragoiescu C, Kneppers A L J, Papapoulos S E
Abstract excerpt
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...
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