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

Autor 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.
Vydáno v Clin Genet (2018)