Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency

Human Mutation

Volumn 30, Issue 7, 2009, Pages

  Hoefs, Saskia J G ^a   Dieteren, Cindy E J ^a,b   Rodenburg, Richard J ^a   Naess, Karin ^c   Bruhn, Helene ^c   Wibom, Rolf ^c   Wagena, Esther ^a   Willems, Peter H ^b   Smeitink, Jan A M ^a   Nijtmans, Leo G ^a   Van Den Heuvel, Lambert P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c KAROLINSKA INSTITUTE   (Sweden)

Author keywords

B172L; Complex I deficiency; Leigh syndrome; Mitochondria; NDUFAF2; OXPHOS system

Indexed keywords

GENOMIC DNA; NDUFAF2 ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ARTICLE; BACULOVIRUS; CASE REPORT; CLINICAL FEATURE; COMPLEX I DEFICIENCY; ENZYME ACTIVITY; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN FUNCTION; SKIN FIBROBLAST; STOP CODON;

BACULOVIRIDAE; CODON, NONSENSE; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FATAL OUTCOME; FEMALE; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HOMOZYGOTE; HUMANS; INFANT; MITOCHONDRIAL PROTEINS; MOLECULAR CHAPERONES; SKIN;

EID: 67649639689     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21037     Document Type: Article

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