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Sequestosome 1: Mutation Frequencies, Haplotypes, and Phenotypes in Familial Paget's Disease of Bone

✍ Scribed by Jean Morissette; Nancy Laurin; Jacques P Brown

Book ID: 119980761
Publisher: American Society for Bone and Mineral Research
Year: 2006
Tongue: English
Weight: 416 KB
Volume: 21
Category: Article
ISSN: 0884-0431
DOI: 10.1359/jbmr.06s207

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## 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 ca