PNPT1 mutations may cause Aicardi-Goutières-Syndrome
Daniel Bamborschke, Mona Kreutzer, Anne Koy, Friederike Koerber, Nadja Lucas, Christoph Huenseler, Peter Herkenrath, Min Ae Lee‐Kirsch, Sebahattin Çırak
Topics & Concepts
InterferonEncephalopathyMissense mutationHyperintensityContext (archaeology)MedicineCompound heterozygosityPathologyMicrocephalyExome sequencingBiologyImmunologyMutationGeneticsInternal medicineGeneMagnetic resonance imagingRadiologyPaleontologyinterferon and immune responsesHepatitis C virus researchSystemic Lupus Erythematosus Research