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The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Acta ophthalmologica - 1 May 2017

Aukrust Ingvild, Jansson Ragnhild W, Bredrup Cecilie, Rusaas Hilde E, Berland Siren, Jørgensen Agnete, Haug Marte G, Rødahl Eyvind, Houge Gunnar, Knappskog Per M

Abstract excerpt

PURPOSE: Despite being the third most common ABCA4 variant observed in patients with Stargardt disease, the functional effect of the intronic ABCA4 variant c.5461-10T>C is unknown. The purpose of this study was to investigate the molecular effect of this variant. METHODS: Fibroblast samples from patients carrying the ABCA4 variant c.5461-10T>C were analysed by isolating total RNA, followed by real-time polymerase...

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Source

Identifiers

PMID: 27775217
DOI: 10.1111/aos.13273

Genes

ABCA4
SDS

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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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