Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients
Experimental Eye Research Aug 14, 2017
Zhou Q, et al. – The research explored the role of Rep1 copy number variation (CNV) in patients with choroideremia (CHM). The data illustrated that CNV within the Rep–1 gene could be a significant contributor in Chinese CHM patients. Sequencing of the Rep–1 gene supplemented with MLPA served as a promising diagnostic strategy in such patients.
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