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Genetics
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在Vivo功能研究的疾病相关的稀有人类变异使用
果蝇
JoVE Journal
Genetics
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JoVE Journal
Genetics
In Vivo Functional Study of Disease-associated Rare Human Variants Using
Drosophila
Please note that all translations are automatically generated.
Click here for the English version.
在Vivo功能研究的疾病相关的稀有人类变异使用
果蝇
DOI:
10.3791/59658-v
•
00:06 min
•
August 20, 2019
•
J. Michael Harnish*
1
,
Samantha L. Deal*
2
,
Hsiao-Tuan Chao
3,4,5
,
Michael F. Wangler
2,4
,
Shinya Yamamoto
2,4,5
1
Department of Molecular and Human Genetics
,
Baylor College of Medicine
,
2
Program in Developmental Biology
,
Baylor College of Medicine
,
3
Department of Pediatrics, Section of Neurology and Developmental Neuroscience
,
Baylor College of Medicine
,
4
Jan and Dan Duncan Neurological Research Institute
,
Texas Children’s Hospital
,
5
Department of Neuroscience
,
Baylor College of Medicine
Chapters
00:04
Title
00:57
Functional Analyses of Human Disease Associated Missense Variants
04:51
Representative Results: Over-expression Based Functional Analyses of Disease Associated Variants in TBX2
06:02
Conclusion
Summary
Automatic Translation
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Automatic Translation
该协议的目的是概述
在果蝇黑色素
体内实验的设计和性能,以评估与人类疾病相关的罕见基因变异的功能后果。
Tags
Drosophila
In Vivo Functional Study
Rare Human Variants
Disease-associated Variants
Protein Function
Rescue Experiments
Overexpression Studies
Gal4-UAS System
Visual System
Photoreceptors
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