review Open AccessTop 1% cited
Mitochondrial DNA mutations in human disease
Nature Reviews Genetics · 2005 · Vol. 6(5) · pp. 389–402
Robert W. Taylor✉(Newcastle University)Douglass M. Turnbull(Newcastle University)
Mitochondrial Function and PathologyMetabolism and Genetic DisordersATP Synthase and ATPases ResearchMitochondrial DNABiologyGeneticsHuman mitochondrial geneticsGenomeMitochondrial diseaseDiseaseNuclear DNAMitochondrionPhenotype
MeSH terms
AgingDNA, MitochondrialHumansMutationNeoplasmsMitochondrial Diseases
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References
Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
Nature Genetics · 1999 · 3,388 citations
Complete sequence of bovine mitochondrial DNA conserved features of the mammalian mitochondrial genome
Journal of Molecular Biology · 1982 · 1,489 citations
Sequence and organization of the human mitochondrial genome
Nature · 1981 · 9,600 citations
Global burden of hypertension: analysis of worldwide data
The Lancet · 2005 · 7,668 citations
PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
Nature Genetics · 2003 · 10,482 citations
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
Trends in Genetics · 1990 · 1,396 citations
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