title: 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.
authors.affiliation: INSERM U383, Hôpital Necker-Enfants Malades, Université René Descartes, Paris V, 149-161 rue de Sèvres, 75743 Paris Cedex 15, France.
authors.forename: G
authors.initials: G
authors.lastname: Collod-Béroud
authors.forename: C
authors.initials: C
authors.lastname: Béroud
authors.forename: L
authors.initials: L
authors.lastname: Adès
authors.forename: C
authors.initials: C
authors.lastname: Black
authors.forename: M
authors.initials: M
authors.lastname: Boxer
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
authors.forename: M
authors.initials: M
authors.lastname: Godfrey
authors.forename: C
authors.initials: C
authors.lastname: Hayward
authors.forename: L
authors.initials: L
authors.lastname: Karttunen
authors.forename: D
authors.initials: D
authors.lastname: Milewicz
authors.forename: L
authors.initials: L
authors.lastname: Peltonen
authors.forename: R I
authors.initials: RI
authors.lastname: Richards
authors.forename: M
authors.initials: M
authors.lastname: Wang
authors.forename: C
authors.initials: C
authors.lastname: Junien
authors.forename: C
authors.initials: C
authors.lastname: Boileau
mesh_terms: D000818:Animals; D001483:Base Sequence; D016208:Databases, Factual; D000071838:Fibrillin-1; D000071837:Fibrillins; D005796:Genes / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D012984:Software; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines