ArticleNucleic acids research1997
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Article in Nucleic acids research, 1997. 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.
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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
9 citing papers in PubMed, 37 citations in OpenAlex.
- Reference Expression Profile of ThreeGenes · 2019Article
- Article
- Article
- The molecular genetics of Marfan syndrome and related disorders.Journal of medical genetics · 2006Review
- Marfan syndrome in the third Millennium.European journal of human genetics : EJHG · 2002Review
- Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Software and database for the analysis of mutations in the human WT1 gene.Nucleic acids research · 1998Article
- Marfan Database (third edition): new mutations and new routines for the software.Nucleic acids research · 1998Article
- Solution structure of the transforming growth factor beta-binding protein-like module, a domain associated with matrix fibrils.The EMBO journal · 1997Article
Corrections and comments
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Authors and funding
15 authors at 10 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were described at first in the heritable connective tissue disorder, Marfan syndrome (MFS). More recently, FBN1 has also been shown to harbor mutations related to a spectrum of conditions phenotypically related to MFS. These mutations are private, essentially missense, generally non-recurrent and widely distributed throughout the gene. To date no clear genotype/phenotype relationship has been observed excepted for the localization of neonatal mutations in a cluster between exons 24 and 32. The second version of the computerized Marfan database contains 89 entries. The software has been modified to accomodate new functions and routines.
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Registered trials
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