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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.
Haack, T.B. et al.: Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J. Med. Genet. 49, 277-283 (2012)
3.
Horvath, R.* et al.: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129, 1674-1684 (2006)