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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7667315/
https://ncbi.nlm.nih.gov/pubmed/32918542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1477
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