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Dokumenttyp:
journal article 
Autor(en):
Haack, TB; Danhauser, K; Haberberger, B; Hoser, J; Strecker, V; Boehm, D; Uziel, G; Lamantea, E; Invernizzi, F; Poulton, J; Rolinski, B; Iuso, A; Biskup, S; Schmidt, T; Mewes, HW; Wittig, I; Meitinger, T; Zeviani, M; Prokisch, H 
Titel:
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. 
Abstract:
An isolated defect of respiratory chain complex I activity is a frequent biochemical abnormality in mitochondrial disorders. Despite intensive investigation in recent years, in most instances, the molecular basis underpinning complex I defects remains unknown. We report whole-exome sequencing of a single individual with severe, isolated complex I deficiency. This analysis, followed by filtering with a prioritization of mitochondrial proteins, led us to identify compound heterozygous mutations in...    »
 
Zeitschriftentitel:
Nat Genet 
Jahr:
2010 
Band / Volume:
42 
Heft / Issue:
12 
Seitenangaben Beitrag:
1131-4 
Sprache:
eng 
Print-ISSN:
1061-4036 
TUM Einrichtung:
r Humangenetik