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Article

Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation.

Investigative ophthalmology & visual science - 1 Jun 2016

Lee Winston, Schuerch Kaspar, Xie Yajing, Zernant Jana, Tsang Stephen H, Sparrow Janet R, Allikmets Rando

Abstract excerpt

PURPOSE: To describe the complex, overlapping phenotype expressed in a two generation family harboring pathogenic mutations in the ABCA4 and GPR143 genes. METHODS: Clinical evaluation of a two generation family included quantitative autofluorescence imaging (qAF, 488-nm excitation) using a modified confocal scanning laser ophthalmoscope equipped with an internal fluorescent reference to account for varying laser...

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Source

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Identifiers

PMID: 27367509
DOI: 10.1167/iovs.16-19621
PMCID: PMC4961055

Genes

ABCA4
ERG
RPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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