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Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

Analysis of the complex I NDUFS8 gene from Leigh syndrome patients with isolated complex I deficiency revealed that one patient with late-onset disease and partial complex I defect was a compound heterozygote for two novel mutations in NDUFS8 gene. Western blot analysis revealed a deficiency in the...

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Bibliografiska uppgifter
Huvudupphovsmän: Procaccio, Vincent, Wallace, Douglas C.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2004
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2821060/
https://ncbi.nlm.nih.gov/pubmed/15159508
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