Progressive Early-Onset Leukodystrophy Related to Biallelic Variants in the KARS Gene: The First Case Described in Latin America

The KARS gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins lysine with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. KARS gene mutations have been linked to diverse neurologic phenotypes, such as neurosensorial hearing lo...

Descripción completa

Detalles Bibliográficos
Autores principales: Vargas, Adriana, Rojas, Jorge, Aivasovsky, Ivan, Vergara, Sergio, Castellanos, Marianna, Prieto, Carolina, Celis, Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759888/
https://www.ncbi.nlm.nih.gov/pubmed/33260297
http://dx.doi.org/10.3390/genes11121437

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7759888/
https://www.ncbi.nlm.nih.gov/pubmed/33260297
http://dx.doi.org/10.3390/genes11121437

Ejemplares similares