Skip to Main content Skip to Navigation
Journal articles

Software and database for the analysis of mutations in the human FBN1 gene.

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.
Document type :
Journal articles
Complete list of metadatas

https://www.hal.inserm.fr/inserm-00143165
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Tuesday, April 24, 2007 - 3:14:36 PM
Last modification on : Wednesday, August 19, 2020 - 11:16:44 AM

Identifiers

  • HAL Id : inserm-00143165, version 1
  • PUBMED : 8594563

Collections

Citation

G. Collod, Christophe Béroud, T. Soussi, C. Junien, C. Boileau. Software and database for the analysis of mutations in the human FBN1 gene.. Nucleic Acids Research, Oxford University Press, 1996, 24 (1), pp.137-40. ⟨inserm-00143165⟩

Share

Metrics

Record views

226