Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

American Journal of Human Genetics

Volumn 83, Issue 4, 2008, Pages 468-478

  Sugiana, Canny ^a,b   Pagliarini, David J ^c,d,e   McKenzie, Matthew ^f   Kirby, Denise M ^a   Salemi, Renato ^a   Abu Amero, Khaled K ^g   Dahl, Hans Henrik M ^a   Hutchison, Wendy M ^a   Vascotto, Katherine A ^a   Smith, Stacey M ^a   Newbold, Robert F ^h   Christodoulou, John ⁱ   Calvo, Sarah ^c,d,e   Mootha, Vamsi K ^c,d,e   Ryan, Michael T ^f   Thorburn, David R ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^f LA TROBE UNIVERSITY   (Australia)

^g KING SAUD UNIVERSITY   (Saudi Arabia)

^h BRUNEL UNIVERSITY   (United Kingdom)

ⁱ UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

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

ARTICLE; C20ORF7 GENE; COMPLEX I DEFICIENCY; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE; GENE MAPPING; GENE MUTATION; GENE SILENCING; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; RNA INTERFERENCE;

COMPUTATIONAL BIOLOGY; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT COMPLEX I; FEMALE; GENETIC MARKERS; HOMOZYGOTE; HUMANS; INTRACELLULAR MEMBRANES; MALE; METHYLTRANSFERASES; MITOCHONDRIAL DISEASES; MODELS, GENETIC; MUTATION; MUTATION, MISSENSE; PEDIGREE; RNA INTERFERENCE;

EID: 53049098744     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2008.09.009     Document Type: Article

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