A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

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Publication year
2021
Author(s)
Wintjes, L.T.
Kava, M.
Brandt, F.A. van den
Brand, M.A.M. van den
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.
Source
Human Mutation, 42, 2, (2021), pp. 135-141
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Publication type
Article / Letter to editor
Please use this identifier to cite or link to this item: https://hdl.handle.net/2066/233717   https://hdl.handle.net/2066/233717
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