Abnormal expression of GABA(A) receptor subunits and hypomotility upon loss of gabra1 in zebrafish

We used whole-exome sequencing (WES) to determine the genetic etiology of a patient with a multi-system disorder characterized by a seizure phenotype. WES identified a heterozygous de novo missense mutation in the GABRA1 gene (c.875C>T). GABRA1 encodes the alpha subunit of the gamma-aminobutyric...

Descripción completa

Detalles Bibliográficos
Autores principales: Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197724/
https://www.ncbi.nlm.nih.gov/pubmed/32205311
http://dx.doi.org/10.1242/bio.051367

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7197724/
https://www.ncbi.nlm.nih.gov/pubmed/32205311
http://dx.doi.org/10.1242/bio.051367

Ejemplares similares