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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
Download from www.researchgate.netMutations inCOA6cause CytochromecOxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy
UploadA novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy
Download from www.researchgate.netNew Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations
Download from dx.doi.orgAnalysis of 953 Human Proteins from a Mitochondrial HEK293 Fraction by Complexome Profiling
Download from doi.orgA guide to diagnosis and treatment of Leigh syndrome
Download from www.researchgate.netPLA2G6 gene mutations cause evolving spinocerebellar ataxia influenced by the genotype
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