TY  - JOUR 
AU  - Emperador, S.
AU  - Garrido-Pérez, N.
AU  - Amezcua-Gil, J.
AU  - Gaudó, P.
AU  - Andrés-Sanz, J. A.
AU  - Yubero, D.
AU  - Fernández Marmiesse, Ana
AU  - O'Callaghan, M. M.
AU  - Ortigoza-Escobar, J. D.
AU  - Iriondo, M.
AU  - Ruiz-Pesini, E.
AU  - García-Cazorla, A.
AU  - Gil-Campos, M.
AU  - Artuch, R.
AU  - Montoya, J.
AU  - Bayona-Bafaluy, M. P.
PY  - 2019
SN  - 1664-8021
UR  - http://hdl.handle.net/20.500.11940/15429
AB  - Encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome 13 (MTDPS13) is a rare genetic disorder caused by defects in F-box leucine-rich repeat protein 4 (FBXL4). Although FBXL4 is essential for the bioenergetic homeostasis of the cell, the...
LA  - eng
KW  - Oxidative Phosphorylation
TI  - Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome
DO  - 10.3389/fgene.2019.01300
T2  - Frontiers in Genetics
M2  - 1300
KW  - CHUS
VL  - 10
ER  -