Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.4/2049
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dc.contributor.authorRibeiro, C-
dc.contributor.authorMacário, MC-
dc.contributor.authorViegas, AT-
dc.contributor.authorPratas, J-
dc.contributor.authorSantos, MJ-
dc.contributor.authorSimões, M-
dc.contributor.authorMendes, C-
dc.contributor.authorBacalhau, M-
dc.contributor.authorGarcia, P-
dc.contributor.authorDiogo, L-
dc.contributor.authorGrazina, M-
dc.date.accessioned2017-07-17T13:59:51Z-
dc.date.available2017-07-17T13:59:51Z-
dc.date.issued2016-11-
dc.identifier.citationMitochondrion. 2016 Nov;31:84-88. dpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.4/2049-
dc.description.abstractLeigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients.pt_PT
dc.language.isoengpt_PT
dc.rightsopenAccesspt_PT
dc.subjectProteínas Mitocondriaispt_PT
dc.subjectDoença de Leighpt_PT
dc.subjectDeficiência de Citocromo-c Oxidasept_PT
dc.titleIdentification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiencypt_PT
dc.typearticlept_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
degois.publication.firstPage84-88pt_PT
degois.publication.lastPage88pt_PT
dc.peerreviewedyespt_PT
degois.publication.volume31pt_PT
dc.identifier.doi10.1016/j.mito.2016.10.004pt_PT
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