| http://purl.uniprot.org/citations/23562761 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23562761 | http://www.w3.org/2000/01/rdf-schema#comment | "NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.mito.2013.03.010"xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "van der Knaap M.S."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Laissue P."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Mateus H.E."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Ortega-Recalde O."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Restrepo C.M."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Patino L.C."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Fonseca D.J."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Atuesta J.J."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/author | "Rivera-Nieto C."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/date | "2013"xsd:gYear |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/name | "Mitochondrion"xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/pages | "749-754"xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/title | "A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations."xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://purl.uniprot.org/core/volume | "13"xsd:string |
| http://purl.uniprot.org/citations/23562761 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/23562761 |
| http://purl.uniprot.org/citations/23562761 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/23562761 |
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| http://purl.uniprot.org/uniprot/#_P49821-mappedCitation-23562761 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23562761 |
| http://purl.uniprot.org/uniprot/#_Q53G70-mappedCitation-23562761 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/23562761 |