Different clinical manifestations of three prime repair exonuclease 1 mutation: A case series

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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Bibliographic Details
Main Authors: Faruk Incecik, Sibel Balci, Rabia Miray Kisla Ekinci, Ozlem M Herguner, Atil Bisgin, Mustafa Yilmaz
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
children
clinical heterogeneity
interferonopathies
three prime repair exonuclease 1
mutations
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=699;epage=703;aulast=

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2020;volume=23;issue=5;spage=699;epage=703;aulast=

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