Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Mutations in the mitochondrial genome, and in particular the mt-tRNAs, are an important cause of human disease. Accurate classification of the pathogenicity of novel variants is vital to allow accurate genetic counseling for patients and their families. The use of weighted criteria based on function...

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Autori principali: Blakely, Emma L, Yarham, John W, Alston, Charlotte L, Craig, Kate, Poulton, Joanna, Brierley, Charlotte, Park, Soo-Mi, Dean, Andrew, Xuereb, John H, Anderson, Kirstie N, Compston, Alistair, Allen, Chris, Sharif, Saba, Enevoldson, Peter, Wilson, Martin, Hammans, Simon R, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W
Natura: Artigo
Lingua:Inglês
Pubblicazione: Blackwell Publishing Ltd 2013
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Research Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3884772/
https://ncbi.nlm.nih.gov/pubmed/23696415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22358
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