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Identification of Novel KMT2B Variants in Chinese Dystonia Patients via Whole-Exome Sequencing

Background: Dystonia is a movement disorder with high clinical and genetic heterogeneity. Recently mutations in lysine-specific histone methyltransferase 2B (KMT2B) gene have been reported to be associated with early-onset progressive dystonia. Methods: We performed whole-exome sequencings (WES) in...

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Detalles Bibliográficos
Autores principales: Ma, Jun, Wang, Lin, Yang, Yingmai, Li, Shanglin, Wan, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626906/
https://www.ncbi.nlm.nih.gov/pubmed/31338059
http://dx.doi.org/10.3389/fneur.2019.00729