Pages that link to "Q71309698"

The following pages link to Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation (Q71309698):

Displaying 18 items.

• Mitochondrial DNA disease-molecular insights and potential routes to a cure (Q27005350) (← links)
• Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation (Q30853128) (← links)
• Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C. (Q40356491) (← links)
• Mitochondrial encephalomyopathies: what next? (Q41180845) (← links)
• Recent developments in the molecular genetics of mitochondrial disorders (Q41725491) (← links)
• Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells (Q42010130) (← links)
• Dichloroacetate therapy in Leigh syndrome with a mitochondrial T8993C mutation (Q44088332) (← links)
• Fatty acid oxidation in fibroblasts from patients with defects in beta-oxidation and in the respiratory chain (Q47699781) (← links)
• Phenotypic variability in a family with a mitochondrial DNA T8993C mutation (Q48341841) (← links)
• Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene (Q57588450) (← links)
• The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli (Q60695086) (← links)
• Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome (Q74502575) (← links)
• Mitochondria in neuromuscular disorders (Q77136103) (← links)
• Compromised fatty acid oxidation in mitochondrial disorders (Q77202776) (← links)
• A family with Leigh syndrome caused by the rarer T8993C mutation (Q77377056) (← links)
• Mutation of the mitochrondrially encoded ATPase 6 gene modeled in the ATP synthase of Escherichia coli (Q77993742) (← links)
• Modeling the Leigh syndrome nt8993 T-->C mutation in Escherichia coli F1F0 ATP synthase (Q78193904) (← links)
• MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases (Q91579924) (← links)