NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect

F. Baertling, L. Sanchez-Caballero, M. A. M. van den Brand, C. -W. Fung, S. H. -S. Chan, V. C. -N. Wong, D. M. E. Hellebrekers, I. F. M. de Coo, J. A. M. Smeitink, R. J. T. Rodenburg, L. G. J. Nijtmans

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)111-118
Number of pages8
JournalClinical Genetics
Volume93
Issue number1
DOIs
Publication statusPublished - 1 Jan 2018

Keywords

  • assembly
  • complex I
  • NDUFA9
  • OXPHOS
  • point mutation
  • RESPIRATORY-CHAIN
  • OXIDATIVE-PHOSPHORYLATION
  • MISSENSE MUTATIONS
  • PROTEIN
  • DIAGNOSIS
  • MEMBRANE

Cite this

Baertling, F., Sanchez-Caballero, L., van den Brand, M. A. M., Fung, C. -W., Chan, S. H. -S., Wong, V. C. -N., Hellebrekers, D. M. E., de Coo, I. F. M., Smeitink, J. A. M., Rodenburg, R. J. T., & Nijtmans, L. G. J. (2018). NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. Clinical Genetics, 93(1), 111-118. https://doi.org/10.1111/cge.13089