Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.

@article{Eekhoff2004FamilialPD,
  title={Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.},
  author={Elisabeth M. W. Eekhoff and Marcel Karperien and Daniel Houtsma and Aeilko H. Zwinderman and Constantin Dragoiescu and Alexander L J Kneppers and Socrates E Papapoulos},
  journal={Arthritis and rheumatism},
  year={2004},
  volume={50 5},
  pages={1650-4}
}
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… CONTINUE READING