@article{OerumRooversLeichsenringetal.2017, author = {Stephanie Oerum and Martine Roovers and Michael Leichsenring and C{\´e}cile Acquaviva-Bourdain and Frauke Beermann and Corinne Gemperle-Britschgi and Alain Fouilhoux and Anne Korwitz-Reichelt and Henry J. Bailey and Louis Droogmans and Udo Oppermann and J{\"o}rn Oliver Sass and Wyatt W. Yue}, title = {Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein}, series = {Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease}, volume = {1863}, number = {12}, publisher = {Elsevier}, issn = {0925-4439}, doi = {10.1016/j.bbadis.2017.09.002}, pages = {3294 -- 3302}, year = {2017}, language = {en} }