Exome sequencing identifies ACAD9 mutations as a cause of complex i deficiency

Nature Genetics

Volumn 42, Issue 12, 2010, Pages 1131-1134

  Haack, Tobias B ^a,b   Danhauser, Katharina ^a,b   Haberberger, Birgit ^a,b   Hoser, Jonathan ^a   Strecker, Valentina ^c   Boehm, Detlef ^d   Uziel, Graziella ^e   Lamantea, Eleonora ^e   Invernizzi, Federica ^e   Poulton, Joanna ^f   Rolinski, Boris ^g   Iuso, Arcangela ^a   Biskup, Saskia ^d   Schmidt, Thorsten ^a   Mewes, Hans Werner ^a,b   Wittig, Ilka ^c   Meitinger, Thomas ^a,b   Zeviani, Massimo ^e   Prokisch, Holger ^a,b  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c GOETHE UNIVERSITY   (Germany)

^d CEGAT GMBH   (Germany)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f UNIVERSITY OF OXFORD   (United Kingdom)

^g Munich Municipal Hospital   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; PROTEIN ACAD9; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UNCLASSIFIED DRUG;

ALLELE; ARTICLE; COMPLEX I DEFICIENCY; FEMALE; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN FAMILY;

ACYL-COA DEHYDROGENASES; AMINO ACID SEQUENCE; CELL LINE; CHILD; CHILD, PRESCHOOL; ELECTRON TRANSPORT COMPLEX I; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; EXONS; FEMALE; FIBROBLASTS; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; RIBOFLAVIN; SEQUENCE ANALYSIS, DNA; TRANSDUCTION, GENETIC;

EID: 78649474742     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.706     Document Type: Article

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