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Dokumenttyp:
journal article 
Autor(en):
Danhauser, K; Iuso, A; Haack, TB; Freisinger, P; Brockmann, K; Mayr, JA; Meitinger, T; Prokisch, H 
Titel:
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. 
Abstract:
Mitochondrial complex I deficiency is a frequent biochemical condition, causing about one third of respiratory chain disorders. Partly due to the large number of genes necessary for its assembly and function only a small proportion of complex I deficiencies are yet confirmed at the molecular genetic level. Now, next generation sequencing approaches are applied to close the gap between biochemical definition and molecular diagnosis. Nevertheless such approaches result in a long list of novel rare...    »
 
Zeitschriftentitel:
Mol Genet Metab 
Jahr:
2011 
Band / Volume:
103 
Heft / Issue:
Seitenangaben Beitrag:
161-6 
Sprache:
eng 
Print-ISSN:
1096-7192 
TUM Einrichtung:
Kinderklinik und Poliklinik; r Humangenetik