NDUFS6

Publications

Rouzier C et al. NDUFS6 related Leigh syndrome: a case report and review of the literature. J Hum Genet. 2019;64(7):637-645.  PMID:30948790.

Spiegel R et al. Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. Eur J Hum Genet. 2009;17(9):1200–1203.  PMID:19259137.

Kirby DM et al. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex deficiency. J Clin Invest. 2004;114(6):837-45.  PMID:15372108.