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Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T. Vithana EN, et al. Nat Genet. 2006 Jul;38(7):755-7. doi: 10.1038/ng1824. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767101
The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank.
Stuart KV, Luben RN, Warwick AN, Madjedi KM, Patel PJ, Biradar MI, Sun Z, Chia MA, Pasquale LR, Wiggs JL, Kang JH, Kim J, Aschard H, Tran JH, Lentjes MAH, Foster PJ, Khawaja AP; Modifiable Risk Factors for Glaucoma Collaboration, the UK Biobank Eye and Vision Consortium, and the International Glaucoma Genetics Consortium; Members of the Modifiable Risk Factors for Glaucoma Collaboration; Members of the UK Biobank Eye and Vision Consortium; Members of the International Glaucoma Genetics Consortium. Stuart KV, et al. Ophthalmol Glaucoma. 2023 Jul-Aug;6(4):366-379. doi: 10.1016/j.ogla.2022.11.008. Epub 2022 Dec 5. Ophthalmol Glaucoma. 2023. PMID: 36481453 Free PMC article.
Segregation of a PRKCG mutation in two RP11 families.
Al-Maghtheh M, Vithana EN, Inglehearn CF, Moore T, Bird AC, Bhattacharya SS. Al-Maghtheh M, et al. Among authors: vithana en. Am J Hum Genet. 1998 May;62(5):1248-52. doi: 10.1086/301819. Am J Hum Genet. 1998. PMID: 9545390 Free PMC article. No abstract available.
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. Chakarova CF, et al. Among authors: vithana en. Hum Mol Genet. 2002 Jan 1;11(1):87-92. doi: 10.1093/hmg/11.1.87. Hum Mol Genet. 2002. PMID: 11773002
126 results