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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...
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| Publicado no: | Biol Open |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Company of Biologists Ltd
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7197724/ https://ncbi.nlm.nih.gov/pubmed/32205311 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/bio.051367 |
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