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DYT‐TUBB4A (DYT4 Dystonia): Clinical Anthology of 11 Cases and Systematized Review

BACKGROUND: DYT‐TUBB4A, formerly known as DYT4, has not been comprehensively described as only one large family and three individual cases have been published. We have recently described an in depth genetic and protein structural analysis of eleven additional cases from four families with four new p...

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Detalles Bibliográficos
Autores principales: Bally, Julien F., Kern, Drew S., Fearon, Conor, Camargos, Sarah, Pereira da Silva‐Junior, Francisco, Barbosa, Egberto Reis, Ozelius, Laurie J., de Carvalho Aguiar, Patricia, Lang, Anthony E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274350/
https://www.ncbi.nlm.nih.gov/pubmed/35844288
http://dx.doi.org/10.1002/mdc3.13452