| 1 | IFT140, RP80
|
| Compound heterozygous variants in IFT140 as a cause of nonsyndromic retinitis pigmentosa.
|
| Low T, Kostakis A, Balasubramanian M.
|
| Ophthalmic Genet. Apr;39(2):286-287. doi: 10.1080/13816810.2017.1393827. Epub 2017 Nov 7 2018
|
| 2 | IFT43, RP80
|
| A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
|
| Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB, Frazer KA, Arts HH, Riazuddin S, Akram J, Hejtmancik JF, Riazuddin SA, Ayyagari R.
|
| Hum Mol Genet. Dec 1;26(23):4741-4751. doi: 10.1093/hmg/ddx356 2017
|
| 3 | IFT140, RP80
|
| Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
|
| Hull S, Owen N, Islam F, Tracey-White D, Plagnol V, Holder GE, Michaelides M, Carss K, Raymond FL, Rozet JM, Ramsden SC, Black GC, Perrault I, Sarkar A, Moosajee M, Webster AR, Arno G, Moore AT.
|
| Invest Ophthalmol Vis Sci. Mar;57(3):1053-62. doi: 10.1167/iovs.15-17976. 2016
|
| 4 | IFT140, RP80
|
| Mutations in human IFT140 cause non-syndromic retinal degeneration
|
| Xu M, Yang L, Wang F, Li H, Wang X, Wang W, Ge Z, Wang K, Zhao L, Li H, Li Y, Sui R, Chen R.
|
| Hum Genet. Oct;134(10):1069-78. doi: 10.1007/s00439-015-1586-x. Epub 2015 Jul 28. 2015
|