Retinitis pigmentosa 45; RP45

Disease ID:825
Name:Retinitis pigmentosa 45; RP45
Associated with:1 target
Synonyms
Retinitis pigmentosa
Database Links
Disease Ontology: DOID:10584
OMIM: 613767
Orphanet: ORPHA791

Targets

CNGB1
References:  1
Mutations:  CNGB1 is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Retinitis pigmentosa 45; RP45

References

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1. Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M. (2001) Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa. Hum. Genet., 108 (4): 328-34. [PMID:11379879]

2. Becirovic E, Nakova K, Hammelmann V, Hennel R, Biel M, Michalakis S. (2010) The retinitis pigmentosa mutation c.3444+1G>A in CNGB1 results in skipping of exon 32. PLoS ONE, 5 (1): e8969. [PMID:20126465]

3. Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K. (2004) A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. Invest. Ophthalmol. Vis. Sci., 45 (12): 4433-9. [PMID:15557452]

4. Schorderet DF, Iouranova A, Favez T, Tiab L, Escher P. (2013) IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies. Biomed Res Int, 2013: 198089. [PMID:23484092]

5. Simpson DA, Clark GR, Alexander S, Silvestri G, Willoughby CE. (2011) Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. J. Med. Genet., 48 (3): 145-51. [PMID:21147909]

6. Song J, Smaoui N, Ayyagari R, Stiles D, Benhamed S, MacDonald IM, Daiger SP, Tumminia SJ, Hejtmancik F, Wang X. (2011) High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest. Ophthalmol. Vis. Sci., 52 (12): 9053-60. [PMID:22025579]