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Case Report: Aicardi-Goutières Syndrome Caused by Novel TREX1 Variants
TREX1 (three prime repair exonuclease 1) gene encodes DNA 3′ end repair exonuclease that plays an important role in DNA repair. Mutations in TREX1 gene have been identified as the cause of a rare autoimmune neurological disease, Aicardi-Goutières syndrome (AGS). Here, we report an AGS case of a 6-mo...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Front Pediatr |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Frontiers Media S.A.
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8113616/ https://ncbi.nlm.nih.gov/pubmed/33996686 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.634281 |
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