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Frédéric Smeets
ORCID
Publication Activity (10 Years)
Years Active: 2019-2019
Publications (10 Years): 1
Top Topics
Men Who Have Sex With Men
Age Related Macular Degeneration
Mass Spectrometry
Amino Acid
Top Venues
Human mutation
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This page only lists publications with an associated author ORCID identifier.
Publications
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Sarah Naessens
,
Julie De Zaeytijd
,
Delfien Syx
,
Roosmarijn E. Vandenbroucke
,
Frédéric Smeets
,
Caroline Van Cauwenbergh
,
Bart Peter Leroy
,
Frank Peelman
,
Frauke Coppieters
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Human mutation
40 (5) (2019)