Characterization of a Naturally Occurring Mutation (Ile-358 to Thr) in Human Dihydrolipoamide Dehydrogenase of a Patient with Leigh Syndrome

DOI QR Code

Yuan, Lin (Department of Chemistry and Institute of Natural Science, College of Natural Science, Daegu University) ;
Kim, Hak-Jung (Department of Chemistry and Institute of Natural Science, College of Natural Science, Daegu University)

Reed, L. J. Acc. Chem. Res. 1974, 7, 40. https://doi.org/10.1021/ar50074a002
Grafakou, O.; Oexle, K.; van den Heuvel, L.; Smeets, R.; Trijbels, F.; Goebel, H. H.; Bosshard, N.; Superti-Furga, A.; Steinmann, B.; Smeitink, J. Eur J. Pediatr. 2003, 162, 714. https://doi.org/10.1007/s00431-003-1282-z
Yuan, L.; Cho, Y.-J.; Kim, H. Bull. Korean Chem. Soc. 2009, 30, 777. https://doi.org/10.5012/bkcs.2009.30.4.777
Yoon, M.-Y.; Lee, K.-J.; Kim, J.; Park H.-C.; Park, S.-H.; Kim, S. G.; Kim, S.-K.; Choi, J.-D. Bull. Korean Chem. Soc. 2009, 30, 1360. https://doi.org/10.5012/bkcs.2009.30.6.1360
Kong, J. N.; Jo, D. H.; Do, H. D.; Lee, J. J.; Kong, K.-H. Bull. Korean Chem. Soc. 2010, 31, 2497. https://doi.org/10.5012/bkcs.2010.31.9.2497
Park, S. H.; Kim, B. G.; Lee, S. H.; Lim, Y.; Cheong, Y.; Ahn, J.- H. Bull. Korean Chem. Soc. 2007, 28, 2248. https://doi.org/10.5012/bkcs.2007.28.12.2248
Quyen, D. V.; Ha, S. C.; Kim, D.; Lee, S.; Park, S.-J.; Kim, K. K.; Kim, Y.-G. Bull. Korean Chem. Soc. 2007, 28, 2539. https://doi.org/10.5012/bkcs.2007.28.12.2539
Yamada, K.; Hara, N.; Shibata, T.; Osago, H.; Tsuchiya, M. Anal. Biochem. 2006, 352, 282. https://doi.org/10.1016/j.ab.2006.02.017