title: A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
authors.affiliation: Insitut für Humangenetik, Unversität Würzburg, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Felbor
authors.forename: H
authors.initials: H
authors.lastname: Stöhr
authors.forename: T
authors.initials: T
authors.lastname: Amann
authors.forename: U
authors.initials: U
authors.lastname: Schönherr
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D003545:Cysteine / Q000235:genetics; D004247:DNA; D005260:Female; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012694:Serine / Q000235:genetics; D019717:Tissue Inhibitor of Metalloproteinase-3
chemical_list: D011506:Proteins; D019717:Tissue Inhibitor of Metalloproteinase-3; D012694:Serine; D004247:DNA; D003545:Cysteine