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A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping. (2024)

First Author: Waldock WJ

Attributed to: Development of AAV gene therapy for blindness caused by cone-rod dystrophy funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1080/13816810.2023.2270554

PubMed Identifier: 38273808

Publication URI: http://europepmc.org/abstract/MED/38273808

Type: Journal Article/Review

Volume: 45

Parent Publication: Ophthalmic genetics

Issue: 2

ISSN: 1381-6810