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PMID: 24136457 已发表 · ppublish 英语

Genetics in dystonia: an update.

Current neurology and neuroscience reports ·第 13 卷 ·第 12 期 ·2014-05-26

Fuchs Tania, Ozelius Laurie J

摘要

The past year has been extremely successful with regard to the genetics of dystonia, with the identification of four new dystonia genes (CIZ1, ANO3, GNAL, and TUBB4A). This progress was primarily achieved because of the application of a new technology, next-generation DNA sequencing, which allows rapid and comprehensive assessment of a patient's genome. In addition, a combination of next-generation and traditional Sanger sequencing has expanded the phenotypic spectrum associated with some of the dystonia plus (ATP1A3) and paroxysmal (PRRT2) loci. This article reviews the newly identified genes and phenotypes and discusses the future applications of next-generation sequencing to dystonia research.

文献信息
期刊
Current neurology and neuroscience reports
期刊简称
Curr Neurol Neurosci Rep
发表日期
2014-05-26
收录日期
2013-10-18
更新日期
2016-10-19
语言
英语
国家/地区
United States
NLM ID
100931790
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