RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/SHA-384/D1B4C69506FC1D3F0623475CF3A5F3D3407AC11D1BE3F5F2BB3C2F50D7B317CDAA48FD067929FD1FD3927912B6211E0Dhttp://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/D1B4C69506FC1D3F0623475CF3A5F3D3407AC11D1BE3F5F2BB3C2F50D7B317CDAA48FD067929FD1FD3927912B6211E0Dhttp://www.w3.org/2000/01/rdf-schema#comment"21 Han Chinese patients with Cockayne syndrome type A were investigated to identify mutations in ERCC8/ERCC6 of which thirteen cases with CS-A were identified with the mutations of ERCC8. 5 types mutations of ERCC8 were identified. Exon 4 rearrangement mutation and c.394_398delTTACA were the major mutations present in Han Chinese patients with CS-A and also discovered three novel mutations."xsd:string
http://purl.uniprot.org/uniprot/#_C1CC0CFD856BDA6CE343A220595470BFB1C599B06AF9C176552BF8CFAB0AB3AA507FC840A37D154FCF03A4B0EB974231http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/D1B4C69506FC1D3F0623475CF3A5F3D3407AC11D1BE3F5F2BB3C2F50D7B317CDAA48FD067929FD1FD3927912B6211E0D
http://purl.uniprot.org/uniprot/G3XAG7http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/D1B4C69506FC1D3F0623475CF3A5F3D3407AC11D1BE3F5F2BB3C2F50D7B317CDAA48FD067929FD1FD3927912B6211E0D
http://purl.uniprot.org/uniprot/#_G3XAG7-mappedCitation-29057985http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/D1B4C69506FC1D3F0623475CF3A5F3D3407AC11D1BE3F5F2BB3C2F50D7B317CDAA48FD067929FD1FD3927912B6211E0D