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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: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2019
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| 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 |