GNB1-Related Rod-Cone Dystrophy: A Case Report
Introduction: The GNB1 (guanine nucleotide-binding protein, β1) gene encodes for the ubiquitous β1 subunit of heterotrimeric G proteins, which are associated with G-protein-coupled receptors (GPCRs). GNB1 mutations cause a neurodevelopmental disorder characterized by a broad clinical spectrum. A nov...
Shranjeno v:
| Principais autores: | , , , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Karger Publishers
2024-03-01
|
| Serija: | Case Reports in Ophthalmology |
| Teme: | |
| Online dostop: | https://beta.karger.com/Article/FullText/537997 |
| Oznake: |
Brez oznak, prvi označite!
|