Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism

Mitochondrial aminoacyl‐tRNA synthetases (mtARSs) are essential, ubiquitously expressed enzymes that covalently attach amino acids to their corresponding tRNA molecules during translation of mitochondrial genes. Deleterious variants in the mtARS genes cause a diverse array of phenotypes, many of whi...

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Detalles Bibliográficos
Autores principales: Burke, E.A., Frucht, S.J., Thompson, K., Wolfe, L.A., Yokoyama, T., Bertoni, M., Huang, Y., Sincan, M., Adams, D.R., Taylor, R.W., Gahl, W.A., Toro, C., Malicdan, M.C.V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2018
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828974/
https://www.ncbi.nlm.nih.gov/pubmed/29120065
http://dx.doi.org/10.1111/cge.13172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5828974/
https://www.ncbi.nlm.nih.gov/pubmed/29120065
http://dx.doi.org/10.1111/cge.13172

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