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Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4
Agrin is a large extracellular matrix protein whose isoforms differ in their tissue distribution and function. Motoneuron-derived y+z+ agrin regulates the formation of the neuromuscular junction (NMJ), while y−z− agrin is widely expressed and has diverse functions. Previously we identified a missens...
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| Publicado no: | Hum Mol Genet |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687949/ https://ncbi.nlm.nih.gov/pubmed/30994901 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz081 |
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