ArticleJournal of medical genetics1998
Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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
9 citing papers in PubMed, 35 citations in OpenAlex.
- Posterior Polar Annular Choroidal Dystrophy: Genetic Insights and Differential Diagnosis in Inherited Retinal Diseases.Current issues in molecular biology · 2024Review
- GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- GEOGRAPHIC ATROPHY: Semantic Considerations and Literature Review.Retina (Philadelphia, Pa.) · 2016Review
- Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia.Human molecular genetics · 2011Article
- Analysis of transcriptional regulatory pathways of photoreceptor genes by expression profiling of the Otx2-deficient retina.PloS one · 2011Article
- The genetics of inherited macular dystrophies.Journal of medical genetics · 2003Review
- Central areolar choroidal dystrophy associated with dominantly inherited drusen.The British journal of ophthalmology · 2002Article
- Molecular genetics of macular degeneration.Documenta ophthalmologica. Advances in ophthalmology · 2001Review
- Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.Documenta ophthalmologica. Advances in ophthalmology · 2001Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Central areolar choroidal dystrophy (CACD) is a retinal disease which causes progressive profound loss of vision in patients during middle age. The disease is inherited as an autosomal dominant trait and shows genetic heterogeneity. Mutations in the peripherin-RDS gene on chromosome 6 have been reported in affected members of families transmitting the disease. A new locus at chromosome 17p13 was identified recently by a genome wide linkage search in members of a large Northern Irish family. We now report the refinement of the critical region for this gene to an interval of approximately 5 cM flanked by polymorphic markers D17S1810 and CHLC GATA7B03.
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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.