title: Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
authors.affiliation: Human Genetics Unit, University of Edinburgh, Western General Hospital, Scotland.
authors.forename: C
authors.initials: C
authors.lastname: Hayward
authors.forename: M E
authors.initials: ME
authors.lastname: Porteous
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis / Q000379:methods; D018076:DNA, Complementary / Q000235:genetics; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005456:Fluorescent Dyes; D005796:Genes; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D054392:Adipokines
chemical_list: D018076:DNA, Complementary; D000071838:Fibrillin-1; D000071837:Fibrillins; D005456:Fluorescent Dyes; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines