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Marfan Database (second edition): 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. 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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https://www.hal.inserm.fr/inserm-00143175
Contributor : Gwenaëlle Collod-Beroud <>
Submitted on : Tuesday, April 24, 2007 - 3:31:09 PM
Last modification on : Wednesday, August 19, 2020 - 11:16:44 AM

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  • HAL Id : inserm-00143175, version 1
  • PUBMED : 9016526

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Gwenaëlle Collod-Béroud, Christophe Béroud, Lesley Adès, Cheryl Black, Maureen Boxer, et al.. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.. Nucleic Acids Research, Oxford University Press, 1997, 25 (1), pp.147-50. ⟨inserm-00143175⟩

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