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

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

The <i>KARS</i> gene encodes the aminoacyl-tRNA synthetase (aaRS), which activates and joins the lysin with its corresponding transfer RNA (tRNA) through the ATP-dependent aminoacylation of the amino acid. <i>KARS</i> gene mutations have been linked to diverse neurologic phen...

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Bibliographic Details
Main Authors: Adriana Vargas, Jorge Rojas, Ivan Aivasovsky, Sergio Vergara, Marianna Castellanos, Carolina Prieto, Luis Celis
Format: Article
Language:English
Published: MDPI AG 2020-11-01
Series:Genes
Subjects:
<i>KARS</i> gene
aminoacylation
leukodystrophy
epilepsy
hearing loss developmental delay
whole exome sequencing
Online Access:https://www.mdpi.com/2073-4425/11/12/1437

Internet

https://www.mdpi.com/2073-4425/11/12/1437

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