Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.

Investigation of the functional impact of CHED- and FECD4-associated SLC4A11 mutations in human corneal endothelial cells.

Mutations in the solute linked carrier family 4 member 11 (SLC4A11) gene are associated with congenital hereditary endothelial dystrophy (CHED) and Fuchs corneal endothelial dystrophy type 4 (FECD4), both characterized by corneal endothelial cell (CEnC) dysfunction and/or cell loss leading to cornea...

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Main Authors: Doug D Chung, Angela C Chen, Charlene H Choo, Wenlin Zhang, Dominic Williams, Christopher G Griffis, Paul Bonezzi, Kavya Jatavallabhula, Alapakkam P Sampath, Anthony J Aldave
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-01-01
Series:PLoS ONE
Online Access:https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0296928&type=printable
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https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0296928&type=printable

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