H-ABC– and dystonia-causing TUBB4A mutations show distinct pathogenic effects
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DOI: 10.1126/sciadv.abj9229
Abstract: Mutations in the brain-specific β-tubulin 4A (TUBB4A) gene cause a broad spectrum of diseases, ranging from dystonia (DYT-TUBB4A) to hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Currently, the mechanisms of how TUBB4A… read more here.
Keywords: causing tubb4a; mutations show; abc dystonia; dystonia causing ... See more keywords