Associated Papers
Clinical features and molecular mechanisms of RP1L1 variants causing occult macular dystrophy.
Pan Y et al.
Hgg Advances, 2025
Whole exome sequencing analysis identifies novel Stargardt disease-related gene mutations in Chinese Stargardt disease and retinitis pigmentosa patients.
Ng TK et al.
Eye (london, England), 2022
Serum anti-recoverin antibodies is found in elderly patients with retinitis pigmentosa and cancer.
Sato T et al.
Acta Ophthalmologica, 2020
Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.
Wang X et al.
Bmc Ophthalmology, 2017
28838317 (PubMed )
Supplement: 12886_2017_549_MOESM3_ESM.pdf
Exome sequencing identifies SUCO mutations in mesial temporal lobe epilepsy.
Sha Z et al.
Neuroscience Letters, 2015
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