2Cross HE, Bard L. Electrooculography in the Best’s macular dystrophy. AmJ Ophthalmol, 1974, 77: 44-50.
3Marquardt A, Stohr H, Passmore LA, et al. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best’s disease). Human Molecular Genetics, 1998, 7:1517 1525.
4Stohr It, Marquardt A, Rivera A, et al. A gene map of the Best’s vitelliform macular dystrophy region in chromosome 11q12-q13.1. GenomeRes, 1998, 8:48-56.
5Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet, 1998, 19: 241-247.
7Sun H, Tsunenari T, Yau KW, et al. The vitelliform macular dystrophy protein defines a new family of chloroide channels. Natl Acad Sci USA, 2002, 99: 4008- 4013.
8Marmorstein AD, Marmorstein I.Y, Rayborn M, et al. Bestrophin, the product of the Best vitelliforrn macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci USA, 2000, 97:12758-12763.
9Tsunenari T, Sun H, Williams J, et al. Structure function analysis of the bestrophin family of anion channels. J Biol Chem, 2003, 278:41114-41125.
10Kramer F, Mohr N, Kellner U, et al. Ten novel mutations in VMD2 associated with Bes tmacular dystrophy (BMD). Hum Mutat, 2003, 22: 418-424.
