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

Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.

Molecular genetics and genomics : MGG - 20 Aug 2024

Chacon-Camacho Oscar F, Xilotl-de Jesús Nancy, Calderón-Martínez Ernesto, Ordoñez-Labastida Vianey, Neria-Gonzalez M Isabel, Villafuerte-de la Cruz Rocío, Martinez-Rojas Augusto, Zenteno Juan Carlos

Abstract excerpt

The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as...

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 Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to High-Throughput Nucleotide Sequencing

Share to Mexico

Share to Pedigree

Share to Retinal Degeneration

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39162841
DOI: 10.1007/s00438-024-02174-x
PMCID: PMC11335775

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants.PMID 39162841Read ↗

The Genetic Landscape of Inherited Retinal Diseases in a Mexican Cohort: Genes, Mutations and Phenotypes.Semantic proximity Read ↗

Genotypic and Phenotypic Insights on 11 Novel Variants in the ABCA4 Gene.Semantic proximity Read ↗

Assessment of ABCA4 Genetic Variants: Current Landscape and Future Prospects.Semantic proximity Read ↗

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.Semantic proximity Read ↗

Comprehensive genetic analysis reveals the mutational landscape of ABCA4-associated retinal dystrophy in a Chinese cohort.Semantic proximity Read ↗

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.Semantic proximity Read ↗

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.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 features and molecular genetics of patients with ABCA4-retinal dystrophies.Semantic proximity Read ↗

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.Semantic proximity Read ↗

Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.Semantic proximity Read ↗

Stargardt disease-associated mutation spectrum of a Russian Federation cohort.Semantic proximity Read ↗

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