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Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran

Kawsar Human Genetics Research Center,Taheri Mohammad,Fallah Mohammad-Sadegh,Abiri Maryam,Golnabi Fatemeh,Bagherian Hamideh, Zeinali Razieh,Farahzadi Hossein, Alborji Marjan,Tehrani Pardis Ghazizadeh,Amini Masoume,Asnavandi Sadaf,Hashemi Mehrdad,Forouzesh Flora, Pasteur Institute of Iran

Journal of Molecular Neuroscience（2021）

Cited 13|Views10
Key words
Genetics,Neuromuscular disease,Spinal muscular atrophy,Autozygosity mapping,Whole-exome sequencing,Mutation,MLPA
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