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Article

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR.

International journal of molecular sciences - 16 Jan 2021

Kortüm Friederike, Kieninger Sinja, Mazzola Pascale, Kohl Susanne, Wissinger Bernd, Prokisch Holger, Stingl Katarina, Weisschuh Nicole

Abstract excerpt

We aimed to validate the effect of non-canonical splice site variants in the RPGR gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G>A), intron 7 (c.779-5T>G), and intron 13 (c.1573-12A>G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing...

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Identifiers

PMID: 33467000
DOI: 10.3390/ijms22020850
PMCID: PMC7830253

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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