Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.
DFNB89
HARS2
KARS1
LARS2
Perrault syndrome
aminoacyl-tRNA synthetases
hearing loss
mitochondria
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
19 Jul 2024
19 Jul 2024
Historique:
received:
24
06
2024
revised:
16
07
2024
accepted:
17
07
2024
medline:
27
7
2024
pubmed:
27
7
2024
entrez:
27
7
2024
Statut:
epublish
Résumé
Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the
Identifiants
pubmed: 39062730
pii: genes15070951
doi: 10.3390/genes15070951
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI20/00619
Organisme : Regional Government of Madrid
ID : S2017/ BMD3721
Organisme : Pontificia Universidad Javeriana
ID : 00008286