ArticleNucleic acids research1996
Software and database for the analysis of mutations in the human FBN1 gene.
Article in Nucleic acids research, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 68 citations in OpenAlex.
- Article
- Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.European journal of human genetics : EJHG · 2009Article
- 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
- Software and database for the analysis of mutations in the VHL gene.Nucleic acids research · 1998Article
- p53 gene mutation: software and database.Nucleic acids research · 1998Article
- Marfan Database (third edition): new mutations and new routines for the software.Nucleic acids research · 1998Article
- p53 and APC gene mutations: software and databases.Nucleic acids research · 1997Article
- Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.Nucleic acids research · 1997Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
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 and many mutations will have to be accumulated before genotype/phenotype relationships emerge. To facilitate mutational analysis of the FBN1 gene, a software package along with a computerized database (currently listing 63 entries) have been created.
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