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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. Among authors: aung t. Nat Genet. 2006 Jul;38(7):755-7. doi: 10.1038/ng1824. Epub 2006 Jun 11. Nat Genet. 2006. PMID: 16767101
Bradyopsia in an Asian man.
Cheng JY, Luu CD, Yong VH, Mathur R, Aung T, Vithana EN. Cheng JY, et al. Among authors: aung t. Arch Ophthalmol. 2007 Aug;125(8):1138-40. doi: 10.1001/archopht.125.8.1138. Arch Ophthalmol. 2007. PMID: 17698770 No abstract available.
SLC4A11 mutations in Fuchs endothelial corneal dystrophy.
Vithana EN, Morgan PE, Ramprasad V, Tan DT, Yong VH, Venkataraman D, Venkatraman A, Yam GH, Nagasamy S, Law RW, Rajagopal R, Pang CP, Kumaramanickevel G, Casey JR, Aung T. Vithana EN, et al. Among authors: aung t. Hum Mol Genet. 2008 Mar 1;17(5):656-66. doi: 10.1093/hmg/ddm337. Epub 2007 Nov 16. Hum Mol Genet. 2008. PMID: 18024964
1,279 results