TY - JOUR U1 - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed) A1 - Oerum, Stephanie A1 - Roovers, Martine A1 - Leichsenring, Michael A1 - Acquaviva-Bourdain, Cécile A1 - Beermann, Frauke A1 - Gemperle-Britschgi, Corinne A1 - Fouilhoux, Alain A1 - Korwitz-Reichelt, Anne A1 - Bailey, Henry J. A1 - Droogmans, Louis A1 - Oppermann, Udo A1 - Sass, Jörn Oliver A1 - Yue, Wyatt W. T1 - Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein JF - Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease KW - Dehydrogenase KW - Mitochondrial tRNA KW - HSD10 KW - Methyltransferase KW - tRNA processing KW - MRPP SN - 0925-4439 SS - 0925-4439 U6 - https://doi.org/10.1016/j.bbadis.2017.09.002 DO - https://doi.org/10.1016/j.bbadis.2017.09.002 PM - 28888424 N1 - Elsevier Open Archive VL - 1863 IS - 12 SP - 3294 EP - 3302 PB - Elsevier ER -