Associated Papers
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
Stiburek L et al.
The Biochemical Journal, 2005
Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.
Dubot A et al.
Mitochondrion, 2004
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
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