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Patch-clamp Capacitance Measurements and Ca2+ Imaging at Single Nerve Terminals in Retinal Slices
Published on: January 19, 2012
A Novel N-Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa
Na Li1,2, Yalong Dang1,2
1Department of Ophthalmology Sanmenxia Eye Hospital/Sanmenxia Central Hospital Affiliated to Henan University of Science and Technology Sanmenxia China.
None:
This report identifies the first N-terminal PRPF6 variant (c.514C>T) as a cause of autosomal dominant Retinitis Pigmentosa. This novel variant is associated with progressive peripheral vision loss but notably preserved central visual acuity, suggesting a distinct phenotypic expression compared to C-terminal variants.
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