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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

✍ Scribed by Crow, Yanick J; Hayward, Bruce E; Parmar, Rekha; Robins, Peter; Leitch, Andrea; Ali, Manir; Black, Deborah N; van Bokhoven, Hans; Brunner, Han G; Hamel, Ben C

Book ID: 109919404
Publisher: Nature Publishing Group
Year: 2006
Tongue: English
Weight: 176 KB
Volume: 38
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng1845

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Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease, resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and chilblain-like skin lesions. Diagnostic criteria include intracerebral calcifications and elevated interferon-alpha and pterin lev