Concepedia

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Gert Van Goethem, Bart Dermaut, A. Löfgren, Jean‐Jacques Martin, Christine Van Broeckhoven

Nature Genetics · 2001 · 838 citations · 16 references

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16

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Ichizo Nishino, Antonella Spinazzola, Michio Hirano · Science · 1999 · 900 citations

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Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

Johannes N. Spelbrink, Fang-Yuan Li, Valeria Tiranti et al. · Nature Genetics · 2001 · 882 citations

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An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Massimo Zeviani, Serenella Servidei, Cinzia Gellera et al. · Nature · 1989 · 637 citations

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Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance

Jyrki Kaukonen, Jukka K. Juselius, Valeria Tiranti et al. · Science · 2000 · 635 citations

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Olivier Le Saux, Zsolt Urbán, Cordula Tschuch et al. · Nature Genetics · 2000 · 540 citations · Full text

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