Articles with "chr6" as a keyword



Novel Alanyl-tRNA Synthetase 2 Pathogenic Variants in Leukodystrophies

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Published in 2019 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2019.01321

Abstract: 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… read more here.

Keywords: pathogenic variants; chr6; trna synthetase; novel alanyl ... See more keywords