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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Genet Genomic Med
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2018
Pynciau:
Original Articles
Mynediad Ar-lein: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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