The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.

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作者： Gholamreza,Zamani ^[1] ; Ali,Hosseini Bereshneh ^[2] ; Reza,Azizi Malamiri ^[3] ; Sayna,Bagheri ^[4] ; Kamyar,Moradi ^[1] ; Mahmoud Reza,Ashrafi ^[5] ; Ali Reza,Tavasoli ^[1] ; Mahmoud,Mohammadi ^[5] ; Reza Shervin,Badv ^[6] ; Masood,Ghahvechi Akbari ^[1] ; Morteza,Heidari ^[1]

作者单位： Pediatrics Center of Excellence, Department of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences, Bagherkhan St, Tehran, 1419733141, Iran. ^[1] Prenatal Diagnosis and Genetic Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran. ^[2] Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. ^[3] Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. ^[4] Faculty of Medicine, Students' Scientific Research Center, Tehran University of Medical Sciences, Tehran, Iran. ^[5] Pediatrics Center of Excellence, Department of Pediatric Neurology, Children's Medical Center, Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran. ^[6] Department of Physical Medicine and Rehabilitation, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. ^[7] Pediatrics Center of Excellence, Department of Pediatric Neurology, Children's Medical Center, Tehran University of Medical Sciences, Bagherkhan St, Tehran, 1419733141, Iran. m-heidari@sina.tums.ac.ir. ^[8] Department of Pediatric Neurology, Vali-e-Asr Hospital, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran. m-heidari@sina.tums.ac.ir. ^[9]

关键词 Duchenne muscular dystrophy Dystrophin mutation Iranian patients MLPA NGS