Associated Papers
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Janssen AJ et al.
Clinical Chemistry, 2006
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
Stiburek L et al.
The Biochemical Journal, 2005
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.
Pecina P et al.
Biochimica Et Biophysica Acta, 2003
[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].
Capková M et al.
Casopis Lekaru Ceskych, 2002
New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.
Pequignot MO et al.
The Journal of Biological Chemistry, 2001
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