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The molecular pathology of pathogenic mitochondrial tRNA variants

Mitochondrial diseases are clinically and genetically heterogeneous disorders, caused by pathogenic variants in either the nuclear or mitochondrial genome. This heterogeneity is particularly striking for disease caused by variants in mitochondrial DNA‐encoded tRNA (mt‐tRNA) genes, posing challenges...

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Detalles Bibliográficos
Autores principales: Richter, Uwe, McFarland, Robert, Taylor, Robert W., Pickett, Sarah J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600956/
https://www.ncbi.nlm.nih.gov/pubmed/33513266
http://dx.doi.org/10.1002/1873-3468.14049