http://purl.uniprot.org/citations/8498846 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/8498846 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/8498846 | http://www.w3.org/2000/01/rdf-schema#comment | "We report a patient with necrotizing encephalomyelopathy (Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying mutation is an A to C transversion in the pyruvate dehydrogenase complex E1 alpha subunit gene. As the E1 alpha subunit is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheritance."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.410330616"xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.org/dc/terms/identifier | "doi:10.1002/ana.410330616"xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Brown G.K."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Brown G.K."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Brown R.M."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Brown R.M."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Land J."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Land J."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Marchington D.R."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Marchington D.R."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Matthews P.M."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Matthews P.M."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Squier M."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/author | "Squier M."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/date | "1993"xsd:gYear |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/name | "Ann. Neurol."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/pages | "652-655"xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/pages | "652-655"xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/title | "Molecular genetic characterization of an X-linked form of Leigh's syndrome."xsd:string |
http://purl.uniprot.org/citations/8498846 | http://purl.uniprot.org/core/title | "Molecular genetic characterization of an X-linked form of Leigh's syndrome."xsd:string |