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STING-associated vasculopathy with onset in infancy: a familial case series report and literature review
Stimulator of interferon genes (STING1) is a key intermediary in activating the type I IFN response. STING-associated vasculopathy with onset in infancy (SAVI) is a very rare autoinflammatory disease that is caused by heterozygous gain-of-function mutations in STING1. SAVI typically manifests as neo...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7867893/ https://www.ncbi.nlm.nih.gov/pubmed/33569478 http://dx.doi.org/10.21037/atm-20-6198 |