相关实验视频

Updated: Jul 11, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

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匹配变异用于基因变异的功能性特征

Sebiha Cevik1, Pei Zhao2,3, Atiyye Zorluer1

  • 1Rare Disease Laboratory, School of Life and Natural Sciences, Abdullah Gul University, Kayseri 38080, Turkey.

G3 (Bethesda, Md.)
|November 7, 2023
PubMed
概括

这项研究使用了Caenorhabditis elegans来分析IFT-140基因的变异,确定了导致毛缺陷的两个特定突变 (P702A和W937stop),有助于解释人类遗传疾病.

关键词:
IFT140 的意思是梅因泽萨尔迪诺综合征 萨尔迪诺综合征西里亚西里亚是什么意思纤毛病是一种纤毛病.匹配的变体匹配的变体

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