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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...

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Библиографические подробности
Опубликовано в: :Eur J Med Genet
Главные авторы: Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
Предметы:
Online-ссылка: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
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