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No biallelic intronic AAGGG repeat expansion in RFC1 was found in patients with late-onset ataxia and MSA.
Parkinsonism & Related Disorders ( IF 3.1 ) Pub Date : 2020-02-26 , DOI: 10.1016/j.parkreldis.2020.02.017
Yu Fan 1 , Shuo Zhang 1 , Jing Yang 1 , Cheng-Yuan Mao 1 , Zhi-Hua Yang 1 , Zheng-Wei Hu 1 , Yan-Lin Wang 1 , Yu-Tao Liu 1 , Han Liu 1 , Yan-Peng Yuan 1 , Chang-He Shi 1 , Yu-Ming Xu 1
Affiliation  

We screened the RFC1 intronic AAGGG repeat expansions in late-onset ataxia cases, MSA patients and controls. The data suggested that no biallelic repeat expansion carrier was found in our cohort and the heterozygous intronic AAGGG repeat expansions may not lead to an increased risk of late-onset ataxia or MSA.



中文翻译:

在迟发性共济失调和MSA患者中未发现RFC1中的双等位基因内含子AAGGG重复扩增。

我们筛选了在迟发性共济失调病例,MSA患者和对照中的RFC1内含子AAGGG重复扩增。数据表明,在我们的队列中未发现双等位基因重复扩增载体,杂合内含子内含AAGGG重复扩增可能不会导致迟发性共济失调或MSA风险增加。

更新日期:2020-02-26
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