title: 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.
authors.affiliation: INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: Collod
authors.forename: C
authors.initials: C
authors.lastname: Béroud
authors.forename: T
authors.initials: T
authors.lastname: Soussi
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: C
authors.initials: C
authors.lastname: Boileau
mesh_terms: D004252:DNA Mutational Analysis; D003628:Database Management Systems; D016208:Databases, Factual; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines