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article · 2015

Whole-exome sequencing reveals a novel CHM gene mutation in a family with choroideremia initially diagnosed as retinitis pigmentosa

Hui Guo, Jisheng Li, Fei Gao, Jiangxia Li, Xinyi Wu, Qiji Liu

25 citationsBMC OphthalmologyDOI: https://doi.org/10.1186/s12886-015-0081-4Open accessPDF reported by metadataFull text reported by metadata