A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions

Aicardi–Goutiéres syndrome (AGS) is a genetic neurodegenerative disorder with clinical symptoms mimicking a congenital viral infection. Five causative genes have been described: three prime repair exonuclease1 (TREX1), ribonucleases H2A, B and C, and most recently SAM domain and HD domain 1 (SAMHD1)...

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Autors principals: Leshinsky-Silver, Esther, Malinger, Gustavo, Ben-Sira, Liat, Kidron, Dvora, Cohen, Sarit, Inbar, Shani, Bezaleli, Tali, Levine, Arie, Vinkler, Chana, Lev, Dorit, Lerman-Sagie, Tally
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062001/
https://ncbi.nlm.nih.gov/pubmed/21102625
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.213
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