Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation. [electronic resource]
- Pediatric research Jul 2012
- 90-4 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1530-0447
10.1038/pr.2012.43 doi
Acidosis, Lactic--genetics Base Pairing Base Sequence Blotting, Northern DNA, Mitochondrial--genetics Fatal Outcome Humans Infant, Newborn Models, Genetic Molecular Sequence Data Pedigree Point Mutation--genetics RNA, Transfer, Ser--genetics Sequence Analysis, DNA