Next-generation sequencing-based molecular diagnosis of chronic non-spherocytic hemolysis in erythrocytic enzymopathies
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چکیده
منابع مشابه
Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia
We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The present case series shows the utility of NGS-based screening in patients with choroideremia. In ad...
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ژورنال
عنوان ژورنال: Canadian Journal of Biotechnology
سال: 2017
ISSN: 2560-8304
DOI: 10.24870/cjb.2017-a70