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Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Carrozzo R, Murray J, Santorelli FM, Capaldi RA (2000) The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli. FEBS Lett. 486: 297–299.

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  • DiMauro S, Schon EA (2001) Mitochondrial DNA mutations in human disease. Am J Med Genet 106: 18–26.

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  • Manfredi G, Gupta N, Vazquez-Memije ME et al (1999) Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 274: 9386–9391.

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Authors and Affiliations

  1. Clinical Biology, Instituto Jacinto Magalhaes, Porto, Portugal

    L. Vilarinho

  2. Neuropediatrics, Hospital Maria Pia, Porto, Portugal

    C. Barbot

  3. Neuropediatrics, Hospital Dona Estefania, Lisboa, Portugal

    R. Carrozzo & E. Calado

  4. Molecular Medicine, IRCCS – Bambino Gesú, Rome, Italy

    A. Tessa, C. Dionisi-Vici & F. M. Santorelli

  5. Neuropathology, Hospital de S. Antonio, Porto, Portugal

    A. Guimarães

Authors
  1. L. Vilarinho
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  2. C. Barbot
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  3. R. Carrozzo
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  4. E. Calado
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  5. A. Tessa
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  6. C. Dionisi-Vici
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  7. A. Guimarães
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  8. F. M. Santorelli
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Vilarinho, L., Barbot, C., Carrozzo, R. et al. Clinical and molecular findings in four new patients harbouring the mtDNA 8993T'C mutation. J Inherit Metab Dis 24, 883–884 (2001). https://doi.org/10.1023/A:1013908728445

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  • DOI: https://doi.org/10.1023/A:1013908728445

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