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Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.
Am J Hum Genet. 2010.
PMID: 20970105
Free PMC article.
Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.
Martin NT, Nakamura K, Paila U, Woo J, Brown C, Wright JA, Teraoka SN, Haghayegh S, McCurdy D, Schneider M, Hu H, Quinlan AR, Gatti RA, Concannon P.
Martin NT, et al.
Cell Death Dis. 2014 Mar 20;5(3):e1130. doi: 10.1038/cddis.2014.99.
Cell Death Dis. 2014.
PMID: 24651433
Free PMC article.
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