Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.2004.tb02929.x/fullpdf
Reference26 articles.
1. Mitochondrial respiratory-chain diseases;DiMauro;N Engl J Med,2003
2. Cytochromeoxidase in health and disease;Barrientos;Gene,2002
3. Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency?;Taanman;Biochem Soc Trans,2001
4. Assembly of cytochrome-c oxidase in cultured human cells;Nijtmans;Eur J Biochem,1998
5. A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway;Dickinson;J Biol Chem,2000
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