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Fall 2015
Congenital hereditary endothelial corneal dystrophy type 2 (CHED2), Harboyan Syndrome (HS) and Fuchs endothelial corneal dystrophy (FECD) are caused by SLC4A11 mutations. The majority of SLC4A11 point mutations cause SLC4A11 misfolding and retention in the endoplasmic reticulum (ER). This impairs...
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