Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

Journal of Medical Genetics

Volumn 41, Issue 1, 2004, Pages 14-17

  Benit P ^a   Slama, A ^b   Cartault, F ^c   Giurgea, I ^a   Chretien, D ^a   Lebon, S ^a   Marsac, C ^d   Munnich, A ^a   Rotig A ^a   Rustin, P ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b BICÊTRE HOSPITAL   (France)

^c Centre Hospitalier Departemental Felix Guyon   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORE PROTEIN; IRON SULFUR PROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SYNAPSIN II;

AMNION CELL; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CELL CULTURE; CHEMICAL ANALYSIS; CHILD; CONTROLLED STUDY; ENCEPHALOMYOPATHY; GENE MUTATION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LEIGH DISEASE; MALE; MITOCHONDRIAL GENETICS; OPTIC NERVE ATROPHY; PHENOTYPE; PREGNANCY; PRIORITY JOURNAL; RESPIRATORY CHAIN; SEQUENCE ANALYSIS;

EID: 9144221957     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.014316     Document Type: Article

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