RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/14758361http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/14758361http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/14758361http://www.w3.org/2000/01/rdf-schema#comment"Deficient activities of multiple steroidogenic enzymes have been reported without and with Antley-Bixler syndrome (ABS), but mutations of corresponding cytochrome P450 enzymes have not been found. We identified mutations in POR, encoding P450 oxidoreductase, the obligate electron donor for these enzymes, in a woman with amenorrhea and three children with ABS, even though knock-out of POR is embryonically lethal in mice. Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.org/dc/terms/identifier"doi:10.1038/ng1300"xsd:string
http://purl.uniprot.org/citations/14758361http://purl.org/dc/terms/identifier"doi:10.1038/ng1300"xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Fujieda K."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Fujieda K."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Mendonca B.B."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Mendonca B.B."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Tajima T."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Tajima T."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Miller W.L."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Miller W.L."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Pandey A.V."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Pandey A.V."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Jabs E.W."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Jabs E.W."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Okuhara K."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Okuhara K."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Arlt W."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Arlt W."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Flueck C.E."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Flueck C.E."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Verge C.F."xsd:string
http://purl.uniprot.org/citations/14758361http://purl.uniprot.org/core/author"Verge C.F."xsd:string