Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis

Identification of the gene responsible for Best macular dystrophy

Konstantin Petrukhin, Markus J. Koisti, Benjamin Bakall et al. · Nature Genetics · 1998 · 686 citations

Medicine, Genetics, Molecular Genetics +12

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

Kazuto Kajiwara, Lauri B. Hahn, Shizuo Mukai et al. · Nature · 1991 · 473 citations

Medicine, Genetics, Ophthalmology +14

The vitelliform macular dystrophy protein defines a new family of chloride channels

Hui Sun, Takashi Tsunenari, King‐Wai Yau et al. · Proceedings of the National Academy of Sciences · 2002 · 470 citations

Health Professions, Genetics, Molecular Biology +15

Bestrophin, the product of the Best vitelliform macular dystrophy gene ( <i>VMD2</i> ), localizes to the basolateral plasma membrane of the retinal pigment epithelium

Alan D. Marmorstein, Lihua Y. Marmorstein, Mary E. Rayborn et al. · Proceedings of the National Academy of Sciences · 2000 · 453 citations · Full text

Medicine, Genetics, Ophthalmology +15

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

John A. Wells, John J. Wroblewski, Jeffrey Keen et al. · Nature Genetics · 1993 · 438 citations

Medicine, Genetics, Molecular Genetics +12