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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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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Purcell, Ryan H., Toro, Camilo, Gahl, William A., Hall, Randy A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha: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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