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Article

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.

American journal of human genetics - 5 Apr 2018

Albert Silvia, Garanto Alejandro, Sangermano Riccardo, Khan Mubeen, Bax Nathalie M, Hoyng Carel B, Zernant Jana, Lee Winston, Allikmets Rando, Collin Rob W J, Cremers Frans P M

Abstract excerpt

Sequence analysis of the coding regions and splice site sequences in inherited retinal diseases is not able to uncover ∼40% of the causal variants. Whole-genome sequencing can identify most of the non-coding variants, but their interpretation is still very challenging, in particular when the relevant gene is expressed in a tissue-specific manner. Deep-intronic variants in ABCA4 have been associated with...

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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: 29526278
DOI: 10.1016/j.ajhg.2018.02.008
PMCID: PMC5985352

Genes

ABCA4

Variants

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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