Autosomal recessive spastic ataxia of charlevoix-saguenay (ARSACS): Case report of a novel nonsense mutation in the SACS gene
Abdul Qavi, Ayush Agarwal, Divyani Garg, Akash V Kharat
Topics & Concepts
MedicineNonsense mutationNonsenseAtaxiaGeneticsMutationSpasticGenePhysical medicine and rehabilitationMissense mutationBiologyPsychiatryCerebral palsyPlant biochemistry and biosynthesisGenetic Neurodegenerative DiseasesNeurological diseases and metabolism