Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

BACKGROUND: GNB1 encodes a subunit of a heterotrimeric G‐protein complex that transduces intracellular signaling cascades. Disruptions to the gene have previously been shown to be embryonic lethal in knockout mice and to cause complex neurodevelopmental disorders in humans. To date, the majority of...

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Detalles Bibliográficos
Autores principales: Schultz‐Rogers, Laura, Masuho, Ikuo, Pinto e Vairo, Filippo, Schmitz, Christopher T., Schwab, Tanya L., Clark, Karl J., Gunderson, Lauren, Pichurin, Pavel N., Wierenga, Klaas, Martemyanov, Kirill A., Klee, Eric W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667315/
https://www.ncbi.nlm.nih.gov/pubmed/32918542
http://dx.doi.org/10.1002/mgg3.1477

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667315/
https://www.ncbi.nlm.nih.gov/pubmed/32918542
http://dx.doi.org/10.1002/mgg3.1477

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