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A novel variant inCOX16causes cytochrome c oxidase deficien..:
Wintjes, Liesbeth T. M.
;
Kava, Maina
;
Brandt, Frans A.
...
Human Mutation. 42 (2020) 2 - p. 135-141 , 2020
Link:
https://doi.org/10.1002/humu.24137
RT Journal T1
A novel variant inCOX16causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction
UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_humu.24137&Exemplar=1&LAN=DE A1 Wintjes, Liesbeth T. M. A1 Kava, Maina A1 Brandt, Frans A. A1 Brand, Mariël A. M. A1 Lapina, Oksana A1 Bliksrud, Yngve T. A1 Kulseth, Mari A. A1 Amundsen, Silja S. A1 Selberg, Terje R. A1 Ybema‐Antoine, Marion A1 Tutakhel, Omar A. Z. A1 Greed, Lawrence A1 Thorburn, David R. A1 Tangeraas, Trine A1 Balasubramaniam, Shanti A1 Rodenburg, Richard J. T. PB Hindawi Limited YR 2020 SN 1059-7794 SN 1098-1004 JF Human Mutation VO 42 IS 2 SP 135 OP 141 LK http://dx.doi.org/https://doi.org/10.1002/humu.24137 DO https://doi.org/10.1002/humu.24137 SF ELIB - SuUB Bremen
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