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
Best vitelliform macular dystrophy in a large Brazilian family.
de Souza CPR et al.
International Journal of Retina and Vitreous, 2019
Best's macular dystrophy in Australia: phenotypic profile and identification of novel BEST1 mutations.
Cohn AC et al.
Eye (london, England), 2011
Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD).
Krämer F et al.
Human Mutation, 2003
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Krämer F et al.
European Journal of Human Genetics : Ejhg, 2000
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.
White K et al.
Human Mutation, 2000
Identification of the gene responsible for Best macular dystrophy.
Petrukhin K et al.
Nature Genetics, 1998
Select a paper to view details