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JoVE Journal Genetics
In vivo functionele studie van ziekten-geassocieerde zeldzame menselijke varianten met behulp van Drosophila
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In vivo functionele studie van ziekten-geassocieerde zeldzame menselijke varianten met behulp van Drosophila

Article DOI: 10.3791/59658-v • 06:41 min • August 20th, 2019
August 20th, 2019 •
*1, *2, 1,3,4,5, 1,2,4, 1,2,4,5
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, 5Department of Neuroscience, Baylor College of Medicine
* These authors contributed equally

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Het doel van dit protocol is om het ontwerp en de prestaties van in vivo experimenten in Drosophila melanogaster te schetsen om de functionele gevolgen van zeldzame genvarianten in verband met menselijke ziekten te beoordelen.

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Genetica uitgave 150 menselijke genetica en genomica Mendeliaanse ziekten zeldzame en niet-gediagnosticeerde ziekten niet gediagnosticeerd ziekten netwerk Drosophila melanogaster variant van onbekende betekenis vus gen van onzekere betekenis Gus functionele Genomics transgene vliegen UAS/GAL4 systeem T2A-GAL4 electroretinogram ERG
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