Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9

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Title:: Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
Document type:: Zeitschriftenaufsatz
Author(s):: Haack, Tobias B.; Madignier, Florence; Herzer, Martina; Lamantea, Eleonora; Danhauser, Katharina; Invernizzi, Federica; Koch, Johannes; Freitag, Martin; Drost, Rene; Hillier, Ingo; Haberberger, Birgit; Mayr, Johannes A.; Ahting, Uwe; Tiranti, Valeria; Rötig, Agnes; Iuso, Arcangela; Horvath, Rita; Tesarova, Marketa; Baric, Ivo; Uziel, Graziella; Rolinski, Boris; Sperl, Wolfgang; Meitinger, Thomas; Zeviani, Massimo; Freisinger, Peter; Prokisch, Holger
Journal title:: Journal of Medical Genetics
Year:: 2012
Journal volume:: 49
Journal issue:: 2
Pages contribution:: 83-89
Fulltext / DOI:: doi:10.1136/jmedgenet-2011-100577
Publisher:: BMJ Publishing Group
E-ISSN:: 1468-6244
Notes:: Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFGgeförderten) Allianz- bzw. Nationallizenz frei zugänglich. This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively
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