A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
10.1136/jmg.35.11.895
Crossref journal-article
BMJ
Journal of Medical Genetics (239)
Bibliography

Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati, S., Pongratz, D. E., Muller-Hocker, J., Jedele, K. B., Meitinger, T., & Gerbitz, K. D. (1998). A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. Journal of Medical Genetics, 35(11), 895–900.

Authors 9
  1. M Jaksch (first)
  2. S Hofmann (additional)
  3. S Kleinle (additional)
  4. S Liechti-Gallati (additional)
  5. D E Pongratz (additional)
  6. J Muller-Hocker (additional)
  7. K B Jedele (additional)
  8. T Meitinger (additional)
  9. K D Gerbitz (additional)
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Dates
Type When
Created 16 years, 9 months ago (Nov. 10, 2008, 3:37 p.m.)
Deposited 2 years, 3 months ago (May 20, 2023, 7:51 p.m.)
Indexed 3 weeks, 3 days ago (Aug. 6, 2025, 9:01 a.m.)
Issued 26 years, 9 months ago (Nov. 1, 1998)
Published 26 years, 9 months ago (Nov. 1, 1998)
Published Print 26 years, 9 months ago (Nov. 1, 1998)
Funders 0

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@article{Jaksch_1998, title={A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.}, volume={35}, ISSN={1468-6244}, url={http://dx.doi.org/10.1136/jmg.35.11.895}, DOI={10.1136/jmg.35.11.895}, number={11}, journal={Journal of Medical Genetics}, publisher={BMJ}, author={Jaksch, M and Hofmann, S and Kleinle, S and Liechti-Gallati, S and Pongratz, D E and Muller-Hocker, J and Jedele, K B and Meitinger, T and Gerbitz, K D}, year={1998}, month=nov, pages={895–900} }