A Novel Homozygous Missense Mutation in the YARS Gene: Expanding the Phenotype of YARS Multisystem Disease

Aminoacyl-tRNA synthetases (ARSs) are crucial enzymes for protein translation. Mutations in genes encoding ARSs are associated with human disease. Tyrosyl-tRNA synthetase is encoded by YARS which is ubiquitously expressed and implicated in an autosomal dominant form of Charcot-Marie-Tooth and autoso...

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Detalles Bibliográficos
Autores principales: Zeiad, Rawah K H M, Ferren, Edwin C, Young, Denise D, De Lancy, Shanelle J, Dedousis, Demitrios, Schillaci, Lori-Anne, Redline, Raymond W, Saab, Shahrazad T, Crespo, Maricruz, Bhatti, Tricia R, Ackermann, Amanda M, Bedoyan, Jirair K, Wood, Jamie R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806200/
https://www.ncbi.nlm.nih.gov/pubmed/33490854
http://dx.doi.org/10.1210/jendso/bvaa196

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7806200/
https://www.ncbi.nlm.nih.gov/pubmed/33490854
http://dx.doi.org/10.1210/jendso/bvaa196

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