Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD)

KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). To date, a reporter-based assay to assess the functional consequences of KAL1 mutations is lacking. We aimed to develop a luciferase assay for novel application to functiona...

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Detalles Bibliográficos
Autores principales: McCabe, Mark J., Hu, Youli, Gregory, Louise C., Gaston-Massuet, Carles, Alatzoglou, Kyriaki S., Saldanha, José W., Gualtieri, Angelica, Thankamony, Ajay, Hughes, Ieuan, Townshend, Sharron, Martinez-Barbera, Juan-Pedro, Bouloux, Pierre-Marc, Dattani, Mehul T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: North Holland Publishing 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4646839/
https://www.ncbi.nlm.nih.gov/pubmed/26375424
http://dx.doi.org/10.1016/j.mce.2015.09.010

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