title: The mutations in the fibronectin gene described in Japanese patients with systemic sclerosis are not present in Dutch patients.
abstract: Recently, a mutant fibronectin gene was identified in skin fibroblasts obtained from sclerotic lesions of 7 Japanese patients with systemic sclerosis (SSc). Two point mutations were found adjacent to the cell-attachment tetrapeptide DNA sequence in exon 7 of the fibronectin gene. In the present study, we investigated whether these point mutations are present in the fibronectin gene of Dutch patients with SSc. We were unable to demonstrate the point mutations in the Dutch SSc patients studied.
authors.affiliation: Department of Biochemistry, University of Nijmegen, The Netherlands.
authors.forename: R
authors.initials: R
authors.lastname: Verheijen
authors.forename: E H
authors.initials: EH
authors.lastname: Oberyé
authors.forename: F H
authors.initials: FH
authors.lastname: van den Hoogen
authors.forename: W J
authors.initials: WJ
authors.lastname: van Venrooij
mesh_terms: D001483:Base Sequence; D005091:Exons; D005353:Fibronectins / Q000235:genetics*; D005796:Genes; D006801:Humans; D007564:Japan; D008969:Molecular Sequence Data; D009154:Mutation; D009426:Netherlands; D016133:Polymerase Chain Reaction; D012595:Scleroderma, Systemic / Q000235:genetics*
chemical_list: D005353:Fibronectins