Four pedigrees with aminoacyl-tRNA synthetase abnormalities
Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Yonehiro Kanemura, Shinji Saitoh, Mitsuhiro Kato, Kumiko Yanagi, Tadashi Kaname, Kenjiro Kosaki
Topics & Concepts
Aminoacyl tRNA synthetaseGeneticsPedigree chartGeneBiologyExome sequencingCompound heterozygosityGenetic heterogeneityTransfer RNAMutationPhenotypeRNARNA and protein synthesis mechanismsRNA Research and SplicingRNA modifications and cancer