ArticleHuman genetics1993
Linkage mapping of the cystathionine beta-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3' untranslated region.
Article in Human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 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.
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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.
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Who cites it
5 citing papers in PubMed, 20 citations in OpenAlex.
- Associations between human disease genes and overlapping gene groups and multiple amino acid runs.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Human cystathionine beta-synthase: gene organization and expression of different 5' alternative splicing.Mammalian genome : official journal of the International Mammalian Genome Society · 1997Article
- A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes.Proceedings of the National Academy of Sciences of the United States of America · 1994Article
- PME of Unverricht-Lundborg type in the Mediterranean region: linkage and linkage disequilibrium confirm the assignment to the EPM1 locus.Human genetics · 1994Article
- Single-strand conformation polymorphism (SSCP) analysis as a tool for genetic mapping.Mammalian genome : official journal of the International Mammalian Genome Society · 1993Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
Abstract
We used single-strand conformation polymorphism (SSCP) to detect DNA polymorphisms in the 3' untranslated (3'UT) region of the gene for cystathionine beta-synthase (CBS). A polymorphism due to a T-to-C substitution at nucleotide 549 of the 3'UT region with heterozygosity of 46% has been identified. Genotypes for this polymorphism have been obtained in all of the informative CEPH families, and CBS has been placed in the linkage map of human chromosome 21.
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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.