The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond
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| Description | scientific article published on 06 February 2019 |
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author: Caroline Van Cauwenbergh Frauke Coppieters Frédéric Smeets Sarah Naessens Delfien Syx Frank Peelman Julie De Zaeytijd Bart Leroy Roosmarijn Vandenbroucke |
| Publication date | February 6, 2019 |
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