Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
rs370411488
in
NDUFS1
gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
PMID 19167255
2009 Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.
PMID 20382551
2010 Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
PMID 21458341
2011 Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency.