Publications:

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

Publication Date: 2019-05

Variant appearance in text: rs2267183

PubMed Link: 30668888

Variant Present in the following documents:

• HUMU-40-539-s001.pdf

View BVdb publication page