Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Journal of Medical Genetics

Volumn 49, Issue 4, 2012, Pages 277-283

  Haack, Tobias B ^a,b   Haberberger, Birgit ^a,b   Frisch, Eva Maria ^c   Wieland, Thomas ^a   Iuso, Arcangela ^a   Gorza, Matteo ^a   Strecker, Valentina ^d   Graf, Elisabeth ^a   Mayr, Johannes A ^e   Herberg, Ulrike ^f   Hennermann, Julia B ^c   Klopstock, Thomas ^g   Kuhn, Klaus A ^k   Ahting, Uwe ^h   Sper, Wolfgang ^e   Wilichowski, Ekkehard ⁱ   Hoffmann, Georg F ^j   Tesarova, Marketa ^l   Hansikova, Hana ^l   Zeman, Jiri ^l   Plecko, Barbara ^m   Zeviani, Massimo ⁿ   Wittig, Ilka ^d   Strom, Tim M ^a,b   Schuelke, Markus ^c   Freisinger, Peter ^o   Meitinger, Thomas ^a,b,p   Prokisch, Holger ^a,b   more..

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d GOETHE UNIVERSITY   (Germany)

^e PARACELSUS MEDICAL UNIVERSITY   (Austria)

^f UNIVERSITY OF BONN   (Germany)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h Heart Center Bogenhausen   (Germany)

ⁱ UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^j UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^k TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^l CHARLES UNIVERSITY   (Czech Republic)

^m UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

ⁿ DEPARTMENT OF NEUROSURGERY   (Italy)

^o Department of Paediatrics   (Germany)

^p Munich Heart Alliance   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

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

ALLELE; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; EXOME; FOLLOW UP; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC CODE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; LOSS OF FUNCTION MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STRUCTURAL GENE;

AMINO ACID SUBSTITUTION; ELECTRON TRANSPORT COMPLEX I; EXOME; GENE EXPRESSION; HUMANS; MITOCHONDRIAL DISEASES; MUTATION; NADH DEHYDROGENASE; SEQUENCE ANALYSIS, DNA;

EID: 84864082138     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100846     Document Type: Article

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