A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.
Felbor
U
U
Insitut für Humangenetik, Unversität Würzburg, Germany.
Stöhr
H
H
Amann
T
T
Schönherr
U
U
Weber
B H
BH
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
D011506:Proteins; D019717:Tissue Inhibitor of Metalloproteinase-3; D012694:Serine; D004247:DNA; D003545:Cysteine