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Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.
Cornes BK, Khor CC, Nongpiur ME, Xu L, Tay WT, Zheng Y, Lavanya R, Li Y, Wu R, Sim X, Wang YX, Chen P, Teo YY, Chia KS, Seielstad M, Liu J, Hibberd ML, Cheng CY, Saw SM, Tai ES, Jonas JB, Vithana EN, Wong TY, Aung T. Cornes BK, et al. Among authors: vithana en. Hum Mol Genet. 2012 Jan 15;21(2):437-45. doi: 10.1093/hmg/ddr463. Epub 2011 Oct 7. Hum Mol Genet. 2012. PMID: 21984434
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
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. 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
126 results