NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

Journal of Clinical Investigation

Volumn 114, Issue 6, 2004, Pages 837-845

  Kirby, Denise M ^a,b   Salemi, Renato ^a   Sugiana, Canny ^a,b   Ohtake, Akira ^c,f   Parry, Lee ^a   Bell, Katrina M ^a   Kirk, Edwin P ^d   Boneh, Avihu ^a,b   Taylor, Robert W ^e   Dahl, Hans Henrik M ^a,b   Ryan, Michael T ^c   Thorburn, David R ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c LA TROBE UNIVERSITY   (Australia)

^d SYDNEY CHILDREN'S HOSPITAL   (Australia)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f SAITAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; COMPLEX I DEFICIENCY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC COMPLEMENTATION; HUMAN; INFANT; LETHAL MUTANT; MALE; NDUFS6 GENE; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RESPIRATORY CHAIN;

EID: 8844244960     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI20683     Document Type: Article

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