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Article

Choroideremia: analysis of the retina from a female symptomatic carrier.

Ophthalmic genetics - 1 Sept 2008

Bonilha Vera L, Trzupek Karmen M, Li Yong, Francis Peter J, Hollyfield Joe G, Rayborn Mary E, Smaoui Nizar, Weleber Richard G

Abstract excerpt

PURPOSE: To define the retinal pathology in a 91 year-old affected matriarch of a three-generation choroideremia family with multiple manifesting carriers. METHODS: Tissue from three different retinal areas was processed for immunohistochemistry. The macular area was processed for transmission electron microscopy. Cryosections were studied by indirect immunofluorescence, using well-characterized antibodies to...

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Identifiers

PMID: 18766988
DOI: 10.1080/13816810802206499
PMCID: PMC3652314

Genes

RPE

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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