The N‐terminal p.(Ser38Cys) <i>TIMP3</i> mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Sarah Naessens(Ghent University Hospital), Frauke Coppieters(HOGENT University of Applied Sciences and Arts)
Human Mutation
January 24, 2019
Cited by 12


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