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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...

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Detalles Bibliográficos
Autores principales: Wang, Xingao, Wang, Qun, Tang, Hefei, Chen, Bin, Dong, Xiang, Niu, Songtao, Li, Shaowu, Shi, Yuzhi, Shan, Wei, Zhang, Zaiqiang
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