The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond

Naessens, S; De Zaeytijd, J; Syx, D; Vandenbroucke, RE; Smeets, F; Van Cauwenberghl, C; Leroy, BP; Peelman, F; Coppieters, F

Coppieters, F (reprint author), Univ Ghent, Ctr Med Genet Ghent, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.; Coppieters, F (reprint author), Ghent Univ Hosp, Corneel Heymanslaan 10, B-9000 Ghent, Belgium.

HUMAN MUTATION, 2019; 40 (5): 539

Abstract

Sorsby fundus dystrophy (SFD) is a macular degeneration caused by mutations in TIMP3, the majority of which introduce a novel cysteine. However, the e......

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