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Article

Prime Editing Strategy to Install the PRPH2 c.828+1G>A Mutation.

Advances in experimental medicine and biology - 1 Jan 2023

Caruso Salvatore Marco, Tsai Yi-Ting, da Costa Bruna Lopes, Kolesnikova Masha, Jenny Laura A, Tsang Stephen H, Quinn Peter M J

Abstract excerpt

Mutations in peripherin 2 (PRPH2) are associated with a spectrum of inherited retinal diseases (IRDs) including retinitis pigmentosa (RP) and macular degeneration. As PRPH2 is localized to cone and rod outer segments, mutations in PRPH2 lead the disorganization or absence of photoreceptor outer segments. Here, we report on a patient with PRPH2-linked RP who exhibited widespread RPE atrophy with a central area of...

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Identifiers

PMID: 37440020
DOI: 10.1007/978-3-031-27681-1_15

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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