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Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Sofou K, Kollberg G, Holmström M, Dávila M, Darin N, Gustafsson CM, Holme E, Oldfors A, Tulinius M, Asin-Cayuela J. Sofou K, et al. Among authors: oldfors a. Mol Genet Genomic Med. 2015 Jan;3(1):59-68. doi: 10.1002/mgg3.115. Epub 2014 Oct 23. Mol Genet Genomic Med. 2015. PMID: 25629079 Free PMC article.
Neuropathology in Kearns-Sayre syndrome.
Oldfors A, Fyhr IM, Holme E, Larsson NG, Tulinius M. Oldfors A, et al. Acta Neuropathol. 1990;80(5):541-6. doi: 10.1007/BF00294616. Acta Neuropathol. 1990. PMID: 2251912
294 results