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Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein
Oerum, Stephanie, Roovers, Martine, Leichsenring, Michael, Acquaviva-Bourdain, Cécile, Beermann, Frauke, Gemperle-Britschgi, Corinne, Fouilhoux, Alain, Korwitz-Reichelt, Anne, Bailey, Henry J., DroogmLanguage:
english
Journal:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
DOI:
10.1016/j.bbadis.2017.09.002
Date:
September, 2017
File:
PDF, 1.56 MB
english, 2017