1 | CSNB3, PDE6B |
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness | |
Tsang SH, Woodruff ML, Jun L, Mahajan V, Yamashita CK, Pedersen R, Lin CS, Goff SP, Rosenberg T, Larsen M, Farber DB, Nusinowitz S. | |
Hum Mutat. Mar;28(3):243-54. doi: 10.1002/humu.20425. 2007 | |
2 | CSNB3 |
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. | |
Gal A, et al. | |
Hum Mol Genet 3 : 323-325. 1994 | |
3 | CSNB3, PDE6B |
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. | |
Gal A, et al. | |
Nat Genet 7 : 64-68. 1994 | |