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Publication year
2006Source
Journal of Inherited Metabolic Disease, 29, 1, (2006), pp. 212-213ISSN
Publication type
Article / Letter to editor

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Organization
Health Evidence
Paediatrics
Former Organization
Epidemiology, Biostatistics & HTA
Journal title
Journal of Inherited Metabolic Disease
Volume
vol. 29
Issue
iss. 1
Page start
p. 212
Page end
p. 213
Subject
IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 8: Mitochondrial medicine; NCEBP 1: Molecular epidemiology; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolismAbstract
Mutations in SURF1, an assembly gene for cytochrome c oxidase (COX), the fourth complex of the oxidative phosphorylation system, are most frequently encountered in patients with COX deficiency. We describe a patient with Leigh syndrome harbouring a mutation in SURF1 who was reported decades ago with a tissue-specific cytochrome c oxidase deficiency.
This item appears in the following Collection(s)
- Academic publications [202563]
- Electronic publications [100732]
- Faculty of Medical Sciences [79925]
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