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Publication
The N‐terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
Journal Contribution - Journal Article
Journal: HUMAN MUTATION
ISSN: 1098-1004
Issue: 5
Volume: 40
Pages: 539 - 551
Publication year:2019
BOF-keylabel:yes
IOF-keylabel:yes
BOF-publication weight:3
Authors:International
Authors from:Government
Accessibility:Open