Case Report: Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders

Background: Leukodystrophies constitute a heterogeneous group of inherited disorders primarily affecting the white matter of the central nervous system. Aminoacyl-tRNA synthetases (ARSs) catalyze the attachment of an amino acids to their cognate transfer RNAs (tRNAs). Pathogenic variants in both cyt...

Descripción completa

Detalles Bibliográficos
Autores principales: Mazaheri, Mahta, Yavari, Mahdie, Zare Marzouni, Hadi, Stufano, Angela, Lovreglio, Piero, D'Amore, Simona, Jahantigh, Hamid Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8820504/
https://www.ncbi.nlm.nih.gov/pubmed/35140751
http://dx.doi.org/10.3389/fgene.2022.816987

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8820504/
https://www.ncbi.nlm.nih.gov/pubmed/35140751
http://dx.doi.org/10.3389/fgene.2022.816987

Ejemplares similares