Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA deletions in adults, following POLG [polymerase (DNA directed), gamma] an...

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Main Authors: Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2012
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3501970/
https://ncbi.nlm.nih.gov/pubmed/23107649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aws231
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