ArticleJournal of ophthalmology2018
Mutation Spectrum of the
Article in Journal of ophthalmology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Cellular-Level Characterization of Cone Photoreceptors and Retinal Pigment Epithelium in Stargardt Disease with Adaptive Optics Imaging.Ophthalmology science · 2026Article
- Biallelic loss-of-function variants inJournal of medical genetics · 2025Article
- Article
- ABCA4 Variant c.5714+5G>A in Trans With Null Alleles Results in Primary RPE Damage.Investigative ophthalmology & visual science · 2023Article
- Functional characterization of ABCA4 genetic variants related to Stargardt disease.Scientific reports · 2022Article
- Stargardt Disease Due to an Intronic Mutation in theInternational medical case reports journal · 2022Article
- Article
- Corrigendum to "Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles".Journal of ophthalmology · 2018Article
Corrections and comments
- Erratum issued
Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo evaluate the frequency and pattern of disease-associated mutations of MATERIALS AND
methodsA total of 59 patients were analyzed for
resultsAn overall detection rate of at least one mutant allele was achieved in 52 of the 59 patients (88.1%). Direct sequencing improved significantly the complete characterization rate, that is, identification of two mutations compared to the microarray analysis (93.1% versus 50%). In total, 40 distinct potentially disease-causing variants of the
conclusionsBy using a combination of methods, we completely molecularly diagnosed 48 of the 59 patients studied. In addition, we identified six previously unreported, potentially pathogenic
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.