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Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism. [electronic resource] by
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- 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
Producer: 20190911
In:
Clinical genetics vol. 93
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Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency. [electronic resource] by
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- Smet, Joél
- Vanlander, Arnaud V
- Vergult, Sarah
- De Bruyne, Ruth
- Roels, Frank
- Stepman, Hedwig
- Roeyers, Herbert
- Menten, Björn
- Van Coster, Rudy
Producer: 20190415
In:
Orphanet journal of rare diseases vol. 13
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Two conformations of a crystalline human tRNA synthetase-tRNA complex: implications for protein synthesis. [electronic resource] by
- Yang, Xiang-Lei
- Otero, Francella J
- Ewalt, Karla L
- Liu, Jianming
- Swairjo, Manal A
- Köhrer, Caroline
- RajBhandary, Uttam L
- Skene, Robert J
- McRee, Duncan E
- Schimmel, Paul
Producer: 20060803
In:
The EMBO journal vol. 25
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Gene expression in chronic granulomatous disease and interferon-γ receptor-deficient cells treated in vitro with interferon-γ. [electronic resource] by
- Frazão, Josias B
- Colombo, Martino
- Simillion, Cedric
- Bilican, Adem
- Keller, Irene
- Wüthrich, Daniel
- Zhu, Zhiqing
- Okoniewski, Michal J
- Bruggmann, Rémy
- Condino-Neto, Antonio
- Newburger, Peter E
Producer: 20200406
In:
Journal of cellular biochemistry vol. 120
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