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Article

Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

Ophthalmology - 1 Jun 2016

Sangermano Riccardo, Bax Nathalie M, Bauwens Miriam, van den Born L Ingeborgh, De Baere Elfride, Garanto Alejandro, Collin Rob W J, Goercharn-Ramlal Angelique S A, den Engelsman-van Dijk Anke H A, Rohrschneider Klaus, Hoyng Carel B, Cremers Frans P M, Albert Silvia

Abstract excerpt

PURPOSE: To elucidate the functional effect of the ABCA4 variant c.5461-10T→C, one of the most frequent variants associated with Stargardt disease (STGD1). DESIGN: Case series. PARTICIPANTS: Seventeen persons with STGD1 carrying ABCA4 variants and 1 control participant. METHODS: Haplotype analysis of 4 homozygotes and 11 heterozygotes for c.5461-10T→C and sequence analysis of the ABCA4 gene for a homozygous...

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Identifiers

PMID: 26976702
DOI: 10.1016/j.ophtha.2016.01.053

Genes

ABCA4
ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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