X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>

We aimed to validate the effect of non-canonical splice site variants in the <i>RPGR</i> 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 intro...

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Bibliographic Details
Main Authors: Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, Susanne Kohl, Bernd Wissinger, Holger Prokisch, Katarina Stingl, Nicole Weisschuh
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:International Journal of Molecular Sciences
Subjects:
retinitis pigmentosa
X-linked
RPGR
non-canonical splice site variant
in vitro splice assay
Online Access:https://www.mdpi.com/1422-0067/22/2/850

Internet

https://www.mdpi.com/1422-0067/22/2/850

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