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
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_s001.pdf
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ et al.
The British Journal of Ophthalmology, 2020
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL et al.
International Journal of Molecular Sciences, 2020
32111077 (PubMed )
Supplement: ijms-21-01597-s001.pdf
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
Liu J et al.
Ophthalmic Research, 2016
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.
Lacassagne E et al.
Molecular Vision, 2011
Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy.
Wong RL et al.
Retina (philadelphia, Pa.), 2010
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