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Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.
Clin Genet. 2018 Mar;93(3):712-718. doi: 10.1111/cge.13172. Epub 2018 Feb 5.
Clin Genet. 2018.
PMID: 29120065
Free PMC article.
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl WA, Mulvihill JJ, Toro C, Markello TC, Wise AL, Ramoni RB, Adams DR, Tifft CJ; UDN.
Gahl WA, et al.
Mol Genet Metab. 2016 Apr;117(4):393-400. doi: 10.1016/j.ymgme.2016.01.007. Epub 2016 Jan 22.
Mol Genet Metab. 2016.
PMID: 26846157
Free PMC article.
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