A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay

Published 2020 View Full Article

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Title
A recurrent TMEM106B mutation in hypomyelinating leukodystrophy: A rapid diagnostic assay
Authors
Keywords
Hypomyelinating leukodystrophy, TMEM106B, Pelizaeus-Merzbacher disease, PLP1, Lysosome
Journal
BRAIN & DEVELOPMENT
Volume 42, Issue 8, Pages 603-606
Publisher
Elsevier BV
Online
2020-06-25
DOI
10.1016/j.braindev.2020.06.002

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