One platform for all researcher needs
AI-powered academic writing assistant
Your #1 AI companion for literature search
AI tool for graphics, illustrations, and artwork
Unlock unlimited use of all AI tools with the Editage All Access membership.
Explore Editage All Accesshttps://doi.org/10.1136/jmedgenet-2013-102038
Copy DOI Journal: Journal of Medical Genetics |  Publication Date: Nov 21, 2013 |
 Citations: 119 |
Affiliation: University of Manchester, Leeds General Infirmary, Great Ormond Street Hospital for Children NHS Foundation Trust, University College London, Guy's and St Thomas' NHS Foundation Trust, Evelina London Children's Healthcare, Royal Preston Hospital, Children's Hospital at Westmead, University of Sydney, Scarborough General Hospital, St Mary's Hospital, Manchester Academic Health Science Centre, Hôpital Gui de Chauliac, University Hospital of MontpellierBackgroundWe recently observed mutations in ADAR1 to cause a phenotype of bilateral striatal necrosis (BSN) in a child with the type I interferonopathy Aicardi-Goutières syndrome (AGS). We therefore decided to...
Sign-in/Register to access full text options 
Free) Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
