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Article

A Computational Approach From Gene to Structure Analysis of the Human ABCA4 Transporter Involved in Genetic Retinal Diseases.

Investigative ophthalmology & visual science - 1 Oct 2017

Trezza Alfonso, Bernini Andrea, Langella Andrea, Ascher David B, Pires Douglas E V, Sodi Andrea, Passerini Ilaria, Pelo Elisabetta, Rizzo Stanislao, Niccolai Neri, Spiga Ottavia

Abstract excerpt

Purpose: The aim of this article is to report the investigation of the structural features of ABCA4, a protein associated with a genetic retinal disease. A new database collecting knowledge of ABCA4 structure may facilitate predictions about the possible functional consequences of gene mutations observed in clinical practice. Methods: In order to correlate structural and functional effects of the observed...

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Identifiers

PMID: 29049734
DOI: 10.1167/iovs.17-22158

Genes

ABCA4

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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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