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3279 First in Man
OBJECTIVES/SPECIFIC AIMS: A mimic of congenital infections and a rare genetic cause of interferon overproduction, Aicardi Goutières Syndrome (AGS) results in significant neurologic disability. AGS is caused by pathogenic changes in the intracellular nucleic acid sensing machinery (TREX1, RNASEH2A, R...
Autores principales: | Adang, Laura, Gavazzi, Francesco, Giorgis, Valentina De, Simone, Micaela De, Fazzi, Elisa, Galli, Jessica, Koh, Jamie, Kramer-Golinkoff, Julia, Orcesi, Simona, Peer, Kyle, Ulrick, Nicole |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cambridge University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6798888/ http://dx.doi.org/10.1017/cts.2019.107 |
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