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Human deafness dystonia syndrome is a mitochondrial disease

The human deafness dystonia syndrome results from the mutation of a protein (DDP) of unknown function. We show now that DDP is a mitochondrial protein and similar to five small proteins (Tim8p, Tim9p, Tim10p, Tim12p, and Tim13p) of the yeast mitochondrial intermembrane space. Tim9p, Tim10p, and Tim1...

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Autors principals: Koehler, Carla M., Leuenberger, Danielle, Merchant, Sabeeha, Renold, Anja, Junne, Tina, Schatz, Gottfried
Format: Artigo
Idioma:Inglês
Publicat: The National Academy of Sciences 1999
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC26750/
https://ncbi.nlm.nih.gov/pubmed/10051608
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