| http://purl.uniprot.org/citations/1551669 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1551669 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1551669 | http://www.w3.org/2000/01/rdf-schema#comment | "We report the molecular characterization of a case of a functional PDH-E1 (E1 subunit of pyruvate dehydrogenase) deficiency, a cause of severe congenital lactic acidosis. Residual PDH-E1 activity was reduced to 10% of normal values, although the subunit appeared to be quantitatively and qualitatively normal at the protein level as determined by Western blotting. The sequence of PDH-E1 alpha mRNA and the corresponding genomic DNA revealed an in-frame 21-bp insertion between codons 305 and 306 of the normal E1 alpha cDNA. The mutational insert commences with a novel GAT codon and is a nearly perfect tandem duplication of the wild type DNA sequence. A serine phosphorylation site regulating the activity of the PDH complex is altered by this insertion, which in all likelihood is responsible for the functional enzymatic deficiency leading to lactic acidosis."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf02265291"xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.org/dc/terms/identifier | "doi:10.1007/bf02265291"xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "Lissens W."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "Lissens W."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "Liebaers I."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "Liebaers I."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "De Meirleir L."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "De Meirleir L."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "Vamos E."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/author | "Vamos E."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/name | "Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/pages | "649-652"xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/pages | "649-652"xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/title | "Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/title | "Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit."xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/volume | "88"xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://purl.uniprot.org/core/volume | "88"xsd:string |
| http://purl.uniprot.org/citations/1551669 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1551669 |
| http://purl.uniprot.org/citations/1551669 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/1551669 |