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Dokumenttyp:
journal article 
Autor(en):
Haack, TB; Madignier, F; Herzer, M; Lamantea, E; Danhauser, K; Invernizzi, F; Koch, J; Freitag, M; Drost, R; Hillier, I; Haberberger, B; Mayr, JA; Ahting, U; Tiranti, V; Rötig, A; Iuso, A; Horvath, R; Tesarova, M; Baric, I; Uziel, G; Rolinski, B; Sperl, W; Meitinger, T; Zeviani, M; Freisinger, P; Prokisch, H 
Titel:
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. 
Abstract:
Mitochondrial complex I deficiency is the most common cause of mitochondrial disease in childhood. Identification of the molecular basis is difficult given the clinical and genetic heterogeneity. Most patients lack a molecular definition in routine diagnostics.A large-scale mutation screen of 75 candidate genes in 152 patients with complex I deficiency was performed by high-resolution melting curve analysis and Sanger sequencing. The causal role of a new disease allele was confirmed by functiona...    »
 
Zeitschriftentitel:
J Med Genet 
Jahr:
2012 
Band / Volume:
49 
Heft / Issue:
Seitenangaben Beitrag:
83-9 
Sprache:
eng 
Print-ISSN:
0022-2593 
TUM Einrichtung:
r Humangenetik