Citations for
1CSNB7, 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
2CSNB7, 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
3CSNB7, 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
4CSNB7, 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
5CSNB7, 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