Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Molecular vision - 1 Jan 2018

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

Abstract excerpt

Purpose: The aim of this study was to analyze and report pathogenic variants in the ABCA4 gene in Brazilian patients with a clinical diagnosis of Stargardt disease. Methods: This retrospective study evaluated variants in the ABCA4 gene in Brazilian patients with Stargardt disease. The patients' visual acuity and age of symptom onset were obtained from previous medical records. The patients were classified...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to ATP-Binding Cassette Transporters
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Fluorescein Angiography

Share to Macular Degeneration

Share to Stargardt Disease

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Open in PubMed Open full text

Identifiers

PMID: 30093795
PMCID: PMC6070459

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.PMID 30093795Read ↗

ABCA4 variant screening in a Turkish cohort with Stargardt disease.Semantic proximity Read ↗

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.Semantic proximity Read ↗

Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation.Semantic proximity Read ↗

ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.Semantic proximity Read ↗

Clinical and Genetic Spectrum of Stargardt Disease in Argentinean PatientsSemantic proximity Read ↗

Unusual clinical phenotype of Stargardt disease.Semantic proximity Read ↗

Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease.Semantic proximity Read ↗

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.Semantic proximity Read ↗

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel VariantsSemantic proximity Read ↗

Phenotype/genotype correlation in a case series of Stargardt's patients identifies novel mutations in the ABCA4 gene.Semantic proximity Read ↗

[Molecular genetic diagnosis of Stargardt disease].Semantic proximity Read ↗

CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.