Nalaganje...

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease

Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNA with cognate amino acids during protein translation. Non-canonical functions are increasingly recognized, and include transcription and translation control and extracellular signaling. Monoallelic muta...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Eur J Med Genet
Main Authors: Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar
Format: Artigo
Jezik:Inglês
Izdano: 2018
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6133759/
https://ncbi.nlm.nih.gov/pubmed/29655802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2018.04.005
Oznake: Označite
Brez oznak, prvi označite!