Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Marion Ybema‐Antoine"'
Autor:
Frans van den Brandt, Maina P. Kava, Silja Svanstrøm Amundsen, Mariël A.M. van den Brand, David R. Thorburn, Trine Tangeraas, Mari Ann Kulseth, Liesbeth T. Wintjes, Yngve Thomas Bliksrud, Marion Ybema‐Antoine, Shanti Balasubramaniam, Lawrence Greed, Oksana Lapina, Richard J. Rodenburg, Omar A.Z. Tutakhel, Terje R. Selberg
Publikováno v:
Human Mutation
Human Mutation, 42, 135-141
Human Mutation, 42, 2, pp. 135-141
Human Mutation, 42, 135-141
Human Mutation, 42, 2, pp. 135-141
COX16 is involved in the biogenesis of cytochrome‐c‐oxidase (complex IV), the terminal complex of the mitochondrial respiratory chain. We present the first report of two unrelated patients with the homozygous nonsense variant c.244C>T(p. Arg82*)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a998cc6051c02a06ad02ec11cf8b25e1
https://doi.org/10.1002/humu.24137
https://doi.org/10.1002/humu.24137
