Waiting
Processando Login

Trial ends in Request Full Access Tell Your Colleague About Jove
Journal / Genetics / Studio funzionale in vivo sulle varianti umane…
JoVE Journal
Genetics

É necessário ter uma assinatura JoVE para assistir este Faça login ou comece sua avaliação gratuita.

JoVE Journal Genetics
Studio funzionale in vivo sulle varianti umane rare associate alla malattia utilizzando la Drosophila
Design and Use of a Low Cost, Automated Morbidostat for Adaptive Evolution of Bacteria Under Antibiotic Drug Selection
Journal (Genetics)
Design and Use of a Low Cost, Automated Morbidostat for Adaptive Evolution of Bacteria Under Antibiotic Drug Selection
Plant Growth and Agrobacterium-mediated Floral-dip Transformation of the Extremophyte Schrenkiella parvula
Journal (Genetics)
Plant Growth and Agrobacterium-mediated Floral-dip Transformation of the Extremophyte Schrenkiella parvula
 
Click here for the English version

Studio funzionale in vivo sulle varianti umane rare associate alla malattia utilizzando la 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

Capítulos

Resumo
Automatic Translation

Please note that all translations are automatically generated.

Click here for the English version.

L'obiettivo di questo protocollo è quello di delineare la progettazione e le prestazioni degli esperimenti in vivo nella Drosophila melanogaster per valutare le conseguenze funzionali delle varianti genetiche rare associate alle malattie umane.

Tags

Genetica Numero 150 genetica umana e genomica Malattie mendeliane malattie rare e non diagnosticate Rete per le malattie non diagnosticate Drosophila melanogaster variante di significato sconosciuto VUS gene di significato incerto GUS funzionale genomica mosche transgeniche sistema UAS/GAL4 T2A-GAL4 elettroretinogramma ERG
Read Article

Get cutting-edge science videos from JoVE sent straight to your inbox every month.

Waiting X
Simple Hit Counter