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- [41] Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene JOURNAL OF DERMATOLOGY, 2016, 43 (07): : 804 - 807
- [42] Identification and Functional Characterization of Two Novel Nonsense Mutations in the β- Subunit of INSR That Cause Severe Insulin Resistance Syndrome HORMONE RESEARCH IN PAEDIATRICS, 2015, 84 (02): : 73 - 78
- [43] Novel nonsense and splice site mutations in CRB1 gene in two Japanese patients with early-onset retinal dystrophy Documenta Ophthalmologica, 2015, 130 : 49 - 55
- [46] The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations Journal of Molecular Neuroscience, 2020, 70 : 1565 - 1573