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Article

Association of Messenger RNA Level With Phenotype in Patients With Choroideremia: Potential Implications for Gene Therapy Dose.

JAMA ophthalmology - 1 Feb 2020

Fry Lewis E, Patrício Maria I, Williams Jonathan, Aylward James W, Hewitt Harriet, Clouston Penny, Xue Kanmin, Barnard Alun R, MacLaren Robert E

Abstract excerpt

Importance: Gene therapy is a promising treatment for choroideremia, an X-linked retinal degeneration. The required minimum level of gene expression to ameliorate degeneration rate is unknown. This can be interrogated by exploring the association between messenger RNA (mRNA) levels and phenotype in mildly affected patients with choroideremia. Objective: To analyze CHM mRNA splicing outcomes in 2 unrelated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 31855248
DOI: 10.1001/jamaophthalmol.2019.5071
PMCID: PMC6990656

Provenance

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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