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Ion Transport Function of SLC4A11 in Corneal Endothelium

โœ Scribed by Jalimarada, Supriya S. ;Ogando, Diego G. ;Vithana, Eranga N. ;Bonanno, Joseph A.


Book ID
121345394
Publisher
Association for Research in Vision and Ophthalmology (ARVO)
Year
2013
Weight
918 KB
Volume
54
Category
Article
ISSN
1552-5783

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Mutations in the SLC4A11 gene, which encodes a plasma membrane borate transporter, cause recessive congenital hereditary endothelial corneal dystrophy type 2 (CHED2), corneal dystrophy and perceptive deafness (Harboyan syndrome), and dominant late-onset Fuchs endothelial corneal dystrophy (FECD). We