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

Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 May 2001

Guymer R H, Héon E, Lotery A J, Munier F L, Schorderet D F, Baird P N, McNeil R J, Haines H, Sheffield V C, Stone E M

Abstract excerpt

OBJECTIVES: To investigate the role of 2 specific alleles of the Stargardt disease gene (ABCA4) in the pathogenesis of age-related macular degeneration (AMD). Secondary objectives were to investigate differences in frequency of the G1961E allele in selected ethnic groups as well as to examine the segregation of both G1961E and D2177N alleles in 5 multiplex families with AMD. METHODS: Five hundred forty-four...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Macular Degeneration

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Rod Cell Outer Segment

Source

Identifiers

PMID: 11346402
DOI: 10.1001/archopht.119.5.745

Genes

ABCA4

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

Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.PMID 11346402Read ↗

Mutation of the Stargardt Disease Gene (ABCR) in Age-related Macular DegenerationSemantic proximity Read ↗

An analysis of allelic variation in the ABCA4 gene.Semantic proximity Read ↗

Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.Semantic proximity Read ↗

Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.Semantic proximity Read ↗

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.Semantic proximity Read ↗

New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.Semantic proximity Read ↗

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

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.Semantic proximity Read ↗

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.Semantic proximity Read ↗

Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.Semantic proximity Read ↗

Retinal degeneration in the Abyssinian and Somali cat (rdAc): correlation between genotype and phenotype and rdAc allele frequency in two continents.Semantic proximity Read ↗

Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.Semantic proximity Read ↗

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