Associated Papers
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Vergaro A et al.
International Journal of Molecular Sciences, 2024
38612555 (PubMed )
Supplement: ijms-25-03744-s001.zip › ijms-2892729-supplementary.pdf
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Naessens S et al.
Human Mutation, 2019
Sorsby fundus dystrophy - A review of pathology and disease mechanisms.
Christensen DRG et al.
Experimental Eye Research, 2017
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