相关实验视频

Updated: May 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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新的FBN1内变体通过框架内外跳转导致孤立的ectopia lentis

Norihiro Shimizu1,2, Yoichi Mashimo3, Hirotaka Yokouchi1,4

  • 1Department of Ophthalmology and Visual Science, Chiba University Graduate School of Medicine, Chiba, Japan.

Journal of human genetics
|February 12, 2025
PubMed
概括

一种新型的FBN1基因突变 (c.1327+3A>C) 通过影响拼接而导致孤立的外皮病 (IEL). 这一发现澄清了FBN1相关疾病中的基因型-表型关系.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast07:31

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

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