Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease

In recent years, an increasing number of mitochondrial disorders have been associated with mutations in mitochondrial aminoacyl‐tRNA synthetases (mt‐aaRSs), which are key enzymes of mitochondrial protein synthesis. Bi‐allelic functional variants in VARS2, encoding the mitochondrial valyl tRNA‐synthe...

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Detalles Bibliográficos
Autores principales: Bruni, Francesco, Di Meo, Ivano, Bellacchio, Emanuele, Webb, Bryn D., McFarland, Robert, Chrzanowska‐Lightowlers, Zofia M.A., He, Langping, Skorupa, Ewa, Moroni, Isabella, Ardissone, Anna, Walczak, Anna, Tyynismaa, Henna, Isohanni, Pirjo, Mandel, Hanna, Prokisch, Holger, Haack, Tobias, Bonnen, Penelope E., Enrico, Bertini, Pronicka, Ewa, Ghezzi, Daniele, Taylor, Robert W., Diodato, Daria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873438/
https://www.ncbi.nlm.nih.gov/pubmed/29314548
http://dx.doi.org/10.1002/humu.23398

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873438/
https://www.ncbi.nlm.nih.gov/pubmed/29314548
http://dx.doi.org/10.1002/humu.23398

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