Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation

  1. González-Quintana, A.
  2. Trujillo-Tiebas, M.J.
  3. Fernández-Perrone, A.L.
  4. Blázquez, A.
  5. Lucia, A.
  6. Morán, M.
  7. Ugalde, C.
  8. Arenas, J.
  9. Ayuso, C.
  10. Martín, M.A.
Journal:
Molecular Genetics and Metabolism

ISSN: 1096-7206 1096-7192

Year of publication: 2020

Volume: 131

Issue: 3

Pages: 341-348

Type: Article

DOI: 10.1016/J.YMGME.2020.10.008 GOOGLE SCHOLAR