Article ID Journal Published Year Pages File Type
1998443 Molecular Genetics and Metabolism 2011 6 Pages PDF
Abstract
We identified a novel mutation, gORF15 + 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.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Authors
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