TitleSoftware and database for the analysis of mutations in the human FBN1 gene.
Publication TypeJournal Article
Year of Publication1996
AuthorsCollod G, Béroud C, Soussi T, Junien C, Boileau C
JournalNucleic acids research
Volume24
Pagination137–140
Date Publishedjan
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.

URLhttp://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=8594563&retmode=ref&cmd=prlinks
PubMed ID8594563
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