“Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”-Reference-Cited by-同舟云学术

“Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS”

Published:2020-07-29 Issue:5 Volume:35 Page:1440-1449
ISSN:0950-222X
Container-title:Eye
language:en
Short-container-title:Eye

Author:

Cundy Olivia^ORCID,Broadgate Suzanne^ORCID,Halford Stephanie^ORCID,MacLaren Robert E.,Shanks Morag E.,Clouston Penny,Gilhooley Michael J.^ORCID,Downes Susan M.

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology

Link

http://www.nature.com/articles/s41433-020-1105-8.pdf

Reference37 articles.

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2. Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, et al. Non-syndromic retinitis pigmentosa. Prog Retin Eye Res. 2018;66:157–86.

3. Daiger SP Ret Net. 2020. https://sph.uth.edu/retnet/home.htm. Accessed 7 April 2020.

4. Ruiz A, Borrego S, Marcos I, Antinolo G. A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet. 1998;62:1452–9.

5. Barragan I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O’Driscoll C, Bhattacharya SS, et al. Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families. Ann Hum Genet. 2008;72(Pt 4):454–62.

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5. Genetic dissection of non-syndromic retinitis pigmentosa;Indian Journal of Ophthalmology;2022