A novel TIMP3 mutation associated with Sorsby fundus dystrophy.
Barbazetto
Irene A
IA
Department of Ophthalmology, Columbia University, New York, NY 10032, USA.
Hayashi
Masanori
M
Klais
Christina M
CM
Yannuzzi
Lawrence A
LA
Allikmets
Rando
R
D000328:Adult; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004252:DNA Mutational Analysis; D005061:Europe, Eastern / Q000208:ethnology; D005091:Exons; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007585:Jews / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D012162:Retinal Degeneration / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D019717:Tissue Inhibitor of Metalloproteinase-3; D019714:Tissue Inhibitor of Metalloproteinases / Q000235:genetics*
C088390:TIMP3 protein, human; D019717:Tissue Inhibitor of Metalloproteinase-3; D019714:Tissue Inhibitor of Metalloproteinases