Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Ian Holt, A. E. Harding, Richard Petty et al. · PubMed · 1990 · 1K citations

Life Sciences, Genetics, Molecular Genetics +14

Prevalence of nuclear and mitochondrial <scp>DNA</scp> mutations related to adult mitochondrial disease

Gráinne S. Gorman, Andrew M. Schaefer, Yi Shiau Ng et al. · Annals of Neurology · 2015 · 943 citations · Full text

Life Sciences, Genetics, Neurology +13

Prevalence of mitochondrial DNA disease in adults

Andrew M. Schaefer, Robert McFarland, Emma L. Blakely et al. · Annals of Neurology · 2007 · 582 citations

Life Sciences, Genetics, Neurology +8

MITOMAP: a human mitochondrial genome database--2004 update

Martin Brandon · Nucleic Acids Research · 2004 · 572 citations · Full text

Life Sciences, Bioinformatics, Genetics +15

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

Mark J. Rieder · Nucleic Acids Research · 1998 · 508 citations · Full text

Life Sciences, Biology, Genetics +17