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1
Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000030595
Abstract: Sorsby fundus dystrophy (SFD) is a rare autosomal dominant disorder with complete penetrance affecting the macula. This is caused by a mutation in the TIMP-3. This objective narrative review aims to provide an overview of…
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Keywords:
narrative review;
sorsby fundus;
dystrophy sfd;
fundus dystrophy ... See more keywords
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2
Published in 2022 at "Genes"
DOI: 10.3390/genes13112103
Abstract: TIMP3 mutations are associated with early-onset macular choroidal neovascularisation for which no treatment currently exists. CRISPR base editing, with its ability to irreversibly correct point mutations by chemical modification of nucleobases at DNA level, may…
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Keywords:
sorsby fundus;
crispr base;
fundus dystrophy;
base editing ... See more keywords