1 | CSNB7, GNAT1
|
| Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
|
| Méjécase C, Laurent-Coriat C, Mayer C, Poch O, Mohand-Saïd S, Prévot C, Antonio A, Boyard F, Condroyer C, Michiels C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C.
|
| PLoS One 11(12):e0168271. doi: 10.1371/journal.pone.0168271. eCollection 2016.
2016
|
2 | CSNB7, GNAT1
|
| A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
|
| Carrigan M, Duignan E, Humphries P, Palfi A, Kenna PF, Farrar GJ.
|
| Br J Ophthalmol 100(4):495-500. doi: 10.1136/bjophthalmol-2015-306939. Epub 2015 Oct 15.
2016
|
3 | CSNB7, GNAT1
|
| GNAT1 associated with autosomal recessive congenital stationary night blindness.
|
| Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA.
|
| Invest Ophthalmol Vis Sci 53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar.
2012
|
4 | CSNB7, GNAT1
|
| Loss of the effector function in a transducin-alpha mutant associated with Nougaret night blindness.
|
| Muradov KG, Artemyev NO.
|
| J Biol Chem 275(10):6969-74. 2000
|
5 | CSNB7, GNAT1
|
| Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.
|
| Dryja TP, et al.
|
| Nat Genet 13 : 358-360. 1996
|