Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

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...

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Autors principals: Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nürnberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nürnberg, Peter, Rutsch, Frank
Format: Artigo
Idioma:Inglês
Publicat: Wiley Subscription Services, Inc., A Wiley Company 2010
Matèries:
Mutation in Brief
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3049152/
https://ncbi.nlm.nih.gov/pubmed/20842748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21357
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