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Article

PROM1 gene variations in Brazilian patients with macular dystrophy.

Ophthalmic genetics - 1 Jan 2000

Salles Mariana Vallim, Motta Fabiana Louise, Dias da Silva Elton, Varela Lima Teixeira Patricia, Antunes Costa Kárita, Filippelli-Silva Rafael, Martin Renan, Pesquero João Bosco, Ferraz Sallum Juliana Maria

Abstract excerpt

BACKGROUND: Although the pathogenicity of the prominin-1 (PROM1) gene has already been described as associated with autosomal dominant Stargardt disease, little is known about sequence variations in this gene. PURPOSE: The aim of this study was to evaluate PROM1 gene sequence variations in patients with macular dystrophy. MATERIAL AND METHODS: This retrospective study evaluated variations in the PROM1 gene...

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Source

Identifiers

PMID: 28095140
DOI: 10.1080/13816810.2016.1275022

Genes

PROM1
ABCA4

Variants

Provenance

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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PROM1 gene variations in Brazilian patients with macular dystrophy.PMID 28095140Read ↗

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