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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2004-5-17
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pubmed:abstractText |
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.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0004-3591
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
50
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1650-4
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:15146436-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:15146436-Carrier Proteins,
pubmed-meshheading:15146436-Case-Control Studies,
pubmed-meshheading:15146436-DNA Mutational Analysis,
pubmed-meshheading:15146436-Family Health,
pubmed-meshheading:15146436-Genotype,
pubmed-meshheading:15146436-Humans,
pubmed-meshheading:15146436-Netherlands,
pubmed-meshheading:15146436-Osteitis Deformans,
pubmed-meshheading:15146436-Phenotype,
pubmed-meshheading:15146436-Point Mutation,
pubmed-meshheading:15146436-Prevalence,
pubmed-meshheading:15146436-Proteins
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pubmed:year |
2004
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pubmed:articleTitle |
Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.
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pubmed:affiliation |
Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, Albinusdreef 2, 2333 ZA Leiden, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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