Cargando…
Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies
The white matter disease spectrum is associated with many genetic diseases, including AARS2, CADASIL, ALD, and others. In this study, to determine the novel alanyl-tRNA synthetase 2 mutation implicated in white matter disease, several families with an autosomal recessive inheritance pattern of white...
Autores principales: | , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928200/ https://www.ncbi.nlm.nih.gov/pubmed/31920941 http://dx.doi.org/10.3389/fneur.2019.01321 |