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http://purl.uniprot.org/citations/8498846http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8498846http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/8498846http://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/8498846http://purl.org/dc/terms/identifier"doi:10.1002/ana.410330616"xsd:string
http://purl.uniprot.org/citations/8498846http://purl.org/dc/terms/identifier"doi:10.1002/ana.410330616"xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Brown G.K."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Brown G.K."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Brown R.M."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Brown R.M."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Land J."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Land J."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Marchington D.R."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Marchington D.R."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Matthews P.M."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Matthews P.M."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Squier M."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/author"Squier M."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/date"1993"xsd:gYear
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/date"1993"xsd:gYear
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/name"Ann. Neurol."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/name"Ann. Neurol."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/pages"652-655"xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/pages"652-655"xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/title"Molecular genetic characterization of an X-linked form of Leigh's syndrome."xsd:string
http://purl.uniprot.org/citations/8498846http://purl.uniprot.org/core/title"Molecular genetic characterization of an X-linked form of Leigh's syndrome."xsd:string