TREX1 and SAMHD1, and Aicardi-Goutières Syndrome
Aicardi-Goutières Syndrome (AGS) is a rare encephalopathy which mimics a viral intrauterine infection and is characterized by calcifications of the basal ganglia, cerebral atrophy and IFN-a in the cerebrospinal fluid. AGS is a heterogenic disease associated with mutations in the gene of the exonucle...
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| Format: | Doctoral Thesis |
| Language: | English |
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Universitat de Barcelona
2015
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| Online Access: | http://hdl.handle.net/10803/291940 |