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Different Clinical Manifestations of Three Prime Repair Exonuclease 1 Mutation: A Case Series

Three prime repair exonuclease 1 (TREX1) degrades single- and double-stranded DNA with 3’-5’ exonuclease activity. TREX1 mutations are related to type 1 interferon-mediated autoinflammation owing to accumulated intracellular nucleic acids. Several cases of systemic lupus erythematosus, Aicardi–Gouti...

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Detalles Bibliográficos
Autores principales:	Incecik, Faruk, Balci, Sibel, Kisla Ekinci, Rabia Miray, Herguner, Ozlem M., Bisgin, Atil, Yilmaz, Mustafa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2020
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887468/ https://www.ncbi.nlm.nih.gov/pubmed/33623276 http://dx.doi.org/10.4103/aian.AIAN_469_18

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