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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Biol Open
Päätekijät: Reyes-Nava, Nayeli G., Yu, Hung-Chun, Coughlin, Curtis R., Shaikh, Tamim H., Quintana, Anita M.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The Company of Biologists Ltd 2020
Aiheet:
Research Article
Linkit: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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