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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884772/
https://www.ncbi.nlm.nih.gov/pubmed/23696415
http://dx.doi.org/10.1002/humu.22358

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