RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/SHA-384/3B49FFDC69E2F40FB60206A4C4E0BB6723A3D1F4902DB11F4E775473E41532F68900BB4E02D927274792DA167339EF64http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3B49FFDC69E2F40FB60206A4C4E0BB6723A3D1F4902DB11F4E775473E41532F68900BB4E02D927274792DA167339EF64http://www.w3.org/2000/01/rdf-schema#comment"study reports 2 families with Sengers syndrome and mutations in the acylglycerol kinase gene; 1 proband had abnormal mitochondria with citrate synthase crystals associated with high citrate synthase activity; these pedigrees confirm that mutation of AGK is responsible for the severe neonatal presentation of Sengers syndrome"xsd:string
http://purl.uniprot.org/uniprot/#_C04174720DC16417AA6A7AC70FF84C18520D5E42978527879BDBD9DB61A088E2196DC8D18AB4FC2CCD08CF61EEE51592http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/3B49FFDC69E2F40FB60206A4C4E0BB6723A3D1F4902DB11F4E775473E41532F68900BB4E02D927274792DA167339EF64
http://purl.uniprot.org/uniprot/Q75KN0http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/3B49FFDC69E2F40FB60206A4C4E0BB6723A3D1F4902DB11F4E775473E41532F68900BB4E02D927274792DA167339EF64
http://purl.uniprot.org/uniprot/#_Q75KN0-mappedCitation-23266196http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/3B49FFDC69E2F40FB60206A4C4E0BB6723A3D1F4902DB11F4E775473E41532F68900BB4E02D927274792DA167339EF64