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2015 | 1 |
2017 | 1 |
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Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Nucleic Acids Res. 2015 May 26;43(10):5112-9. doi: 10.1093/nar/gkv408. Epub 2015 Apr 29.
Nucleic Acids Res. 2015.
PMID: 25925575
Free PMC article.
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
Oerum S, Roovers M, Leichsenring M, Acquaviva-Bourdain C, Beermann F, Gemperle-Britschgi C, Fouilhoux A, Korwitz-Reichelt A, Bailey HJ, Droogmans L, Oppermann U, Sass JO, Yue WW.
Oerum S, et al.
Biochim Biophys Acta Mol Basis Dis. 2017 Dec;1863(12):3294-3302. doi: 10.1016/j.bbadis.2017.09.002. Epub 2017 Sep 7.
Biochim Biophys Acta Mol Basis Dis. 2017.
PMID: 28888424
Free article.
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