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Wintjes LTM, Kava M, van den Brandt FA, et al. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2020;42(2):135-141doi: 10.1002/humu.24137.
Wintjes, L. T. M., Kava, M., van den Brandt, F. A., van den Brand, M. A. M., Lapina, O., Bliksrud, Y. T., Kulseth, M. A., Amundsen, S. S., Selberg, T. R., Ybema-Antoine, M., Tutakhel, O. A. Z., Greed, L., Thorburn, D. R., Tangeraas, T., Balasubramaniam, S., & Rodenburg, R. J. T. (2021). A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Human mutation, 42(2), 135-141. https://doi.org/10.1002/humu.24137
Wintjes, Liesbeth T M, et al. "A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction." Human mutation vol. 42,2 (2021): 135-141. doi: https://doi.org/10.1002/humu.24137
Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. Hum Mutat. 2021 Feb;42(2):135-141. doi: 10.1002/humu.24137. Epub 2020 Nov 30. PMID: 33169484; PMCID: PMC7898715.
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