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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...
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| Vydáno v: | Hum Mutat |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2017
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| Témata: | |
| On-line přístup: | 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 |
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