RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/16025116http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16025116http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/16025116http://www.w3.org/2000/01/rdf-schema#comment"The mouse mutation fragilitas ossium (fro) leads to a syndrome of severe osteogenesis and dentinogenesis imperfecta with no detectable collagen defect. Positional cloning of the locus identified a deletion in the gene encoding neutral sphingomyelin phosphodiesterase 3 (Smpd3) that led to complete loss of enzymatic activity. Our knowledge of SMPD3 function is consistent with the pathology observed in mutant mice and provides new insight into human pathologies."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.org/dc/terms/identifier"doi:10.1038/ng1603"xsd:string
http://purl.uniprot.org/citations/16025116http://purl.org/dc/terms/identifier"doi:10.1038/ng1603"xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Salvayre R."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Salvayre R."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Guenet J.-L."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Guenet J.-L."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Goldberg M."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Goldberg M."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Poirier C."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Poirier C."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Bishop C.E."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Bishop C.E."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Negre-Salvayre A."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Negre-Salvayre A."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Adams C.P."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Adams C.P."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Aubin I."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Aubin I."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Auge N."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Auge N."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Opsahl S."xsd:string
http://purl.uniprot.org/citations/16025116http://purl.uniprot.org/core/author"Opsahl S."xsd:string