Identification of a deletion in the NDUFS4 gene using array-comparative genomic hybridization in a patient with suspected mitochondrial respiratory disease
Keywords: a-CGH; array-comparative genomic hybridization; CNVs; copy number variants; NDUFS4; NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18Â kDa (NADH-coenzyme Q reductase); PCR; polymerase chain reaction; ATPase6; ATP Synthase 6; SURF1; surfeit 1; Leigh syn