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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2003-10-30
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pubmed:databankReference |
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pubmed:abstractText |
Mutations in Sequestosome 1 (SQSTM1) have been shown to segregate with familial Paget's disease of bone (PDB). We examined the coding sequence of SQSTM1 in five PDB pedigrees and found three novel mutations clustered around the C-terminal ubiquitin associated domain. Disruptions of the C-terminal domain of SQSTM1 seem to be a leading cause of familial PDB.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0884-0431
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1748-53
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:14584883-Adaptor Proteins, Signal Transducing,
pubmed-meshheading:14584883-Alternative Splicing,
pubmed-meshheading:14584883-Base Sequence,
pubmed-meshheading:14584883-Carrier Proteins,
pubmed-meshheading:14584883-DNA Mutational Analysis,
pubmed-meshheading:14584883-Exons,
pubmed-meshheading:14584883-Female,
pubmed-meshheading:14584883-Humans,
pubmed-meshheading:14584883-Introns,
pubmed-meshheading:14584883-Male,
pubmed-meshheading:14584883-Molecular Sequence Data,
pubmed-meshheading:14584883-Mutation,
pubmed-meshheading:14584883-NF-kappa B,
pubmed-meshheading:14584883-Osteitis Deformans,
pubmed-meshheading:14584883-Pedigree,
pubmed-meshheading:14584883-Protein Structure, Tertiary,
pubmed-meshheading:14584883-Proteins,
pubmed-meshheading:14584883-Ubiquitin
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pubmed:year |
2003
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pubmed:articleTitle |
Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.
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pubmed:affiliation |
Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas 78229, USA. paist@uthscsa.edu
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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