Fatal neonatal lactic acidosis caused by a novel de novo mitochondrial G7453A tRNA-Serine ((UCN)) mutation.

Götz, Alexandra

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