Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998443 | Molecular Genetics and Metabolism | 2011 | 6 Pages |
Abstract
We identified a novel mutation, gORF15Â +Â 556delA (p.Lys184fs), in a Han Chinese family with retinitis pigmentosa. This mutation expands the mutation spectrum of RPGR and helps to study molecular pathogenesis of RP further.
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Authors
Ningdong Li, Shuzhen Dai, Liling Zhang, Han Mei, Liming Wang,