Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Five Novel RPGR Mutation in brief: Mutations in Families with XLinked Retinitis PigmentosaOriginal Research · 2000
2. 2Pathogenic mechanisms of RPGR mutations in X-linked retinitis pigmentosa: integrating clinical pedigree and single-cell transcriptomicsOriginal Research · 2026
3. 3Clinical sequencing of the retinitis pigmentosa gene <i>RPGR</i> in over 1,000 cases of vision loss2024 · 4 citations
4. 4Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene2024 · 1 citations
5. 5Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa2024