Wird geladen...
A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity
Mutations in G protein-coupled receptors (GPCRs) that increase constitutive signaling activity can cause human disease. A de novo C-terminal mutation (R1465W) in the adhesion GPCR BAI2 (also known as ADGRB2) was identified in a patient suffering from progressive spastic paraparesis and other neurolo...
Gespeichert in:
| Veröffentlicht in: | Hum Mutat |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
2017
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5679302/ https://ncbi.nlm.nih.gov/pubmed/28891236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23336 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|