Fatal systemic disorder caused by biallelic variants in FARSA

BACKGROUND: Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. FARSA, which encodes the α subunit of cytosolic phenylalanyl-tRNA synthetase, was recently reported as a suspected causal gene for multiorgan disord...

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Detalles Bibliográficos
Autores principales: Kim, Soo Yeon, Ko, Saebom, Kang, Hyunook, Kim, Man Jin, Moon, Jangsup, Lim, Byung Chan, Kim, Ki Joong, Choi, Murim, Choi, Hee-Jung, Chae, Jong-Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344665/
https://www.ncbi.nlm.nih.gov/pubmed/35918773
http://dx.doi.org/10.1186/s13023-022-02457-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344665/
https://www.ncbi.nlm.nih.gov/pubmed/35918773
http://dx.doi.org/10.1186/s13023-022-02457-9

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