Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity
Nejat Mahdieh, Ameneh Sharifi, Ali Rabbani, Mahmoud Reza Ashrafi, Ali Reza Tavasoli, Reza Shervin Badv, Joshua L. Bonkowsky, Bahareh Rabbani
Topics & Concepts
Metachromatic leukodystrophyLeukodystrophyCompound heterozygosityIn silicoMedicineMissense mutationGeneticsAlleleArylsulfatase AMutationGeneBiologyDiseaseInternal medicinePathologyLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusMetabolism and Genetic Disorders