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

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

DOI:
10.3791/59658-v

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00:06 min

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August 20, 2019

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, , , ,
1Department of Molecular and Human Genetics,Baylor College of Medicine, 2Program in Developmental Biology,Baylor College of Medicine, 3Department of Pediatrics, Section of Neurology and Developmental Neuroscience,Baylor College of Medicine, 4Jan and Dan Duncan Neurological Research Institute,Texas Children’s Hospital, 5神経科学科,Baylor College of Medicine

章

  • 00:04標題
  • 00:57Functional Analyses of Human Disease Associated Missense Variants
  • 04:51Representative Results: Over-expression Based Functional Analyses of Disease Associated Variants in TBX2
  • 06:02Conclusion

概要

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自動翻訳

The goal of this protocol is to outline the design and performance of in vivo experiments in Drosophila melanogaster to assess the functional consequences of rare gene variants associated with human diseases.

タグ

DrosophilaIn Vivo Functional StudyRare Human VariantsDisease-associated VariantsProtein FunctionRescue ExperimentsOverexpression StudiesGal4-UAS SystemVisual SystemPhotoreceptors

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