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首页> 外文期刊>Neurology: Official Journal of the American Academy of Neurology >Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome.
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Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome.

机译:变量筛选MEIS1编码区域的不宁腿综合症患者。

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摘要

Restless legs syndrome (RLS) is a common and genetically complex neurologic disease presenting with an urge to move the legs and dysesthesias in the evening and at times of rest. Genome-wide association studies have linked single nucleotide polymorphisms in MEIS1 and 3 other loci to an increased susceptibility to RLS. However, to date, only one potentially causal variant has been reported. Therefore, we screened the coding regions and exon-intron boundaries of MEIS1 for variants, which by exerting a strong phenotypic effect could provide a basis for assessing the function of the gene in RLS.
机译:不宁腿综合征(RLS)是一种常见的和基因呈现复杂的神经系统疾病有冲动把腿和感觉迟钝晚上,在休息。协会研究表明单核苷酸在MEIS1和其他3个位点多态性对RLS的易感性增加。目前为止,只有一个潜在的因果变异被报道。地区和exon-intron MEIS1的边界通过施加强大的表型变异效果评估可以提供一个依据RLS的基因的功能。

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