Whole‐exome sequencing for variant discovery in blepharospasm

BACKGROUND: Blepharospasm (BSP) is a type of focal dystonia characterized by involuntary orbicularis oculi spasms that are usually bilateral, synchronous, and symmetrical. Despite strong evidence for genetic contributions to BSP, progress in the field has been constrained by small cohorts, incomplet...

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Detalles Bibliográficos
Publicado en:Mol Genet Genomic Med
Main Authors: Tian, Jun, Vemula, Satya R., Xiao, Jianfeng, Valente, Enza Maria, Defazio, Giovanni, Petrucci, Simona, Gigante, Angelo Fabio, Rudzińska‐Bar, Monika, Wszolek, Zbigniew K., Kennelly, Kathleen D., Uitti, Ryan J., van Gerpen, Jay A., Hedera, Peter, Trimble, Elizabeth J., LeDoux, Mark S.
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2018
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Original Articles
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6081235/
https://ncbi.nlm.nih.gov/pubmed/29770609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.411
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