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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: rajagopal r. 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
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
Soumittra N, Loganathan SK, Madhavan D, Ramprasad VL, Arokiasamy T, Sumathi S, Karthiyayini T, Rachapalli SR, Kumaramanickavel G, Casey JR, Rajagopal R. Soumittra N, et al. Among authors: rajagopal r. J Hum Genet. 2014 Aug;59(8):444-53. doi: 10.1038/jhg.2014.55. Epub 2014 Jul 10. J Hum Genet. 2014. PMID: 25007886
500 results