• Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Glu211del (c.631_633delGAA) (211delE); ClinVar=VCV002430648; Zygosity=Heterozygous (PubMed=20382551; PubMed=22033105).
  
• Mutation; HGNC; HGNC:7707; NDUFS1; Simple; p.Val228Ala (c.683T>C); ClinVar=VCV000429933; Zygosity=Heterozygous (PubMed=20382551; PubMed=22033105).
  

PubMed=20382551; DOI=10.1016/j.ymgme.2010.03.015
Saskia J.G. Hoefs, Ola H. Skjeldal, Richard J. Rodenburg, Bard Nedregaard, Edwin P.M. van Kaauwen, Ute Spiekerkoetter, Jurgen-Christoph von Kleist-Retzow, Johannes Albertus Maria Smeitink, Leo G.J. Nijtmans, Lambertus P.W.J. van den Heuvel;
Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Mol. Genet. Metab. 100:251-256(2010)

PubMed=22033105; DOI=10.1016/j.bbadis.2011.10.009
An M. Voets, Merei Huigsloot, Patrick J. Lindsey, Anne M. Leenders, Werner J.H. Koopman, Peter H.G.M. Willems, Richard J. Rodenburg, Johannes Albertus Maria Smeitink, Hubert J.M. Smeets;
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis.
Biochim. Biophys. Acta 1822:1161-1168(2012)