retinitis pigmentosa, X-linked with choroidal involvement

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^[1]

Genetics

mutations in RPE65 gene

Clinical manifestations

More general terms

retinitis pigmentosa (RP)

Additional terms

retinoid isomerohydrolase; all-trans-retinyl-palmitate hydrolase; retinal pigment epithelium-specific 65 kD protein; retinol isomerase (RPE65)

References

↑ Bowne SJ1, Humphries MM, Sullivan LS et al A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet. 2011 Oct;19(10):1074-81 PMID: https://www.ncbi.nlm.nih.gov/pubmed/21654732

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