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Pseudo-obstruction–inducing ACTG2(R257C) alters actin organization and function
Actin γ 2, smooth muscle (ACTG2) R257C mutation is the most common genetic cause of visceral myopathy. Individuals with ACTG2 mutations endure prolonged hospitalizations and surgical interventions, become dependent on intravenous nutrition and bladder catheterization, and often die in childhood. Cur...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Clinical Investigation
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455133/ https://www.ncbi.nlm.nih.gov/pubmed/32814715 http://dx.doi.org/10.1172/jci.insight.140604 |