Autor: XinRong Wang
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Pathogenic mechanisms of RPGR mutations in X-linked retinitis pigmentosa: integrating clinical pedigree and single-cell transcriptomics
PurposeThis study aims to identify pathogenic retinitis pigmentosa GTPase regulator (RPGR) mutations in a Chinese pedigree with X-linked retinitis pigmentosa (XLRP) and elucidate the cellular and molecular mechanisms underlying RPGR-associated photorec…