Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

@article{Wissinger1997MutationAO,
  title={Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.},
  author={Bernd Wissinger and D. Besch and Britta Baumann and Sascha Fauser and Margot Christ-Adler and Bernhard Jurklies and Eberhart Zrenner and Beate Leo-Kottler},
  journal={Biochemical and biophysical research communications},
  year={1997},
  volume={234 2},
  pages={511-5}
}
DNA sequence analysis of the gene encoding subunit 6 of the NADH-ubiquinone-oxidoreductase complex (ND6) in human mitochondria was performed in 25 independent patients who suffer from Lebers hereditary optic neuropathy (LHON). In 10 cases the well-known LHON mutation at nucleotide position (np) 14484 was detected. Furthermore, silent substitutions at np14167 and np14527 and missense mutations at np14498, np14564, np14568, and np14582 were found in individual patients. The np14498 and np14568… CONTINUE READING

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