Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference21 articles.
1. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy;Fernandez-Vizarra;Hum. Mol. Genet.,2007
2. Mitochondrial DNA cytochrome b mutations associated with Leber's hereditary optic neuropathy and evidence for deleterious interactions between mutations;Brown;Am. J. Hum. Genet.,1991
3. Cytochrome b mutations in Leber hereditary optic neuropathy;Johns;Biochem. Biophys. Res. Commun.,1991
4. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA;Andreu;N. Engl. J. Med.,1999
5. A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome;De Coo;Ann. Neurol.,1999
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