A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure
10.1038/ng706
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

de Lonlay, P., Valnot, I., Barrientos, A., Gorbatyuk, M., Tzagoloff, A., Taanman, J.-W., Benayoun, E., Chrétien, D., Kadhom, N., Lombès, A., de Baulny, H. O., Niaudet, P., Munnich, A., Rustin, P., & Rötig, A. (2001). A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nature Genetics, 29(1), 57–60.

Authors 15
  1. Pascale de Lonlay (first)
  2. Isabelle Valnot (additional)
  3. Antoni Barrientos (additional)
  4. Marina Gorbatyuk (additional)
  5. Alexander Tzagoloff (additional)
  6. Jan-Willem Taanman (additional)
  7. Emmanuel Benayoun (additional)
  8. Dominique Chrétien (additional)
  9. Noman Kadhom (additional)
  10. Anne Lombès (additional)
  11. Hélène Ogier de Baulny (additional)
  12. Patrick Niaudet (additional)
  13. Arnold Munnich (additional)
  14. Pierre Rustin (additional)
  15. Agnès Rötig (additional)
References 25 Referenced 262
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  2. von Kleist-Retzow, J.C. et al. A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am. J. Hum. Genet. 63, 428–435 (1998). (10.1086/301957) / Am. J. Hum. Genet. by JC von Kleist-Retzow (1998)
  3. Dumoulin, R. et al. A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance. Mol. Cell. Probes 10, 389–391 (1996). (10.1006/mcpr.1996.0053) / Mol. Cell. Probes by R Dumoulin (1996)
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Dates
Type When
Created 23 years, 1 month ago (July 26, 2002, 4:43 a.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 6:15 p.m.)
Indexed 3 weeks, 4 days ago (Aug. 5, 2025, 8:41 a.m.)
Issued 24 years, 1 month ago (July 30, 2001)
Published 24 years, 1 month ago (July 30, 2001)
Published Online 24 years, 1 month ago (July 30, 2001)
Published Print 23 years, 11 months ago (Sept. 1, 2001)
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@article{de_Lonlay_2001, title={A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure}, volume={29}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng706}, DOI={10.1038/ng706}, number={1}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={de Lonlay, Pascale and Valnot, Isabelle and Barrientos, Antoni and Gorbatyuk, Marina and Tzagoloff, Alexander and Taanman, Jan-Willem and Benayoun, Emmanuel and Chrétien, Dominique and Kadhom, Noman and Lombès, Anne and de Baulny, Hélène Ogier and Niaudet, Patrick and Munnich, Arnold and Rustin, Pierre and Rötig, Agnès}, year={2001}, month=jul, pages={57–60} }