TY - GEN AU - Götz,Alexandra AU - Isohanni,Pirjo AU - Liljeström,Brita AU - Rummukainen,Jaana AU - Nikolajev,Kari AU - Herrgård,Eila AU - Marjavaara,Sanna AU - Suomalainen,Anu TI - Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation SN - 1530-0447 PY - 2012///1015 KW - Acidosis, Lactic KW - genetics KW - Base Pairing KW - Base Sequence KW - Blotting, Northern KW - DNA, Mitochondrial KW - Fatal Outcome KW - Humans KW - Infant, Newborn KW - Models, Genetic KW - Molecular Sequence Data KW - Pedigree KW - Point Mutation KW - RNA, Transfer, Ser KW - Sequence Analysis, DNA N1 - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't UR - https://doi.org/10.1038/pr.2012.43 ER -