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1.
Haack, T.B. et al.: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J. Med. Genet. 49, 83-89 (2012)
2.
Mayr, J.A.* et al.: Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. Mol. Genet. Metab. 103, 358-361 (2011)
3.
O'Toole, J.F.* et al.: Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest. 120, 791-802 (2010)