Associated Papers
Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.
Bitan J et al.
Investigative Ophthalmology & Visual Science, 2025
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.
Soto-Sierra M et al.
European Journal of Ophthalmology, 2022
Sensing through Non-Sensing Ocular Ion Channels.
Kabra M et al.
International Journal of Molecular Sciences, 2020
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Kubota D et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
Nonsense-mediated decay as the molecular cause for autosomal recessive bestrophinopathy in two unrelated families.
Pomares E et al.
Investigative Ophthalmology & Visual Science, 2012
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