http://purl.uniprot.org/citations/16025116 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/16025116 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/16025116 | http://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/16025116 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1603"xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng1603"xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Salvayre R."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Salvayre R."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Guenet J.-L."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Guenet J.-L."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Goldberg M."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Goldberg M."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Poirier C."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Poirier C."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Bishop C.E."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Bishop C.E."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Negre-Salvayre A."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Negre-Salvayre A."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Adams C.P."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Adams C.P."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Aubin I."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Aubin I."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Auge N."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Auge N."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Opsahl S."xsd:string |
http://purl.uniprot.org/citations/16025116 | http://purl.uniprot.org/core/author | "Opsahl S."xsd:string |