The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Human Mutation
Naessens, Sarah S; De Zaeytijd, Julie J; Syx, Delfien D; Vandenbroucke, Roosmarijn E RE; Smeets, Frédéric F; Van Cauwenbergh, Caroline C; Leroy, Bart P BP; Peelman, Frank F; Coppieters, Frauke F
Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction.
Plos One
Bashash, Morteza M; Shah, Amil A; Hislop, Greg G; Treml, Martin M; Bretherick, Karla K; Janoo-Gilani, Rozmin R; Leach, Stephen S; Le, Nhu N; Bajdik, Chris C; Brooks-Wilson, Angela A