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
Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide.
Guan B et al.
Jama Ophthalmology, 2022
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
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