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
40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.
Lorenzana-Blanco N et al.
European Journal of Ophthalmology, 2022
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA et al.
Investigative Ophthalmology & Visual Science, 2021
34015078 (PubMed )
Supplement: iovs-62-6-22_s002.pdf
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.
Wittström E et al.
Ophthalmic Genetics, 2011
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.
Hartzell HC et al.
Physiological Reviews, 2008
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