Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Tobias B Haack,Katharina Danhauser,Birgit Haberberger,Jonathan Hoser,Valentina Strecker,Detlef Boehm,Graziella Uziel,Eleonora Lamantea,Federica Invernizzi,Joanna Poulton,Boris Rolinski,Arcangela Iuso,Saskia Biskup,Thorsten Schmidt,Hans-Werner Mewes,Ilka Wittig,Thomas Meitinger,Massimo Zeviani,Holger Prokisch

NATURE GENETICS（2010）

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摘要

Holger Prokisch and colleagues report whole-exome sequencing of an individual with severe complex I deficiency, followed by screening in an additional 120 cases. They identify mutations in ACAD9 as causal for complex I deficiency.

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关键词

Metabolic disorders,Mutation,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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