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Human Corneal Expression of SLC4A11, a Gene Mutated in Endothelial Corneal Dystrophies

Two blinding corneal dystrophies, pediatric-onset congenital hereditary endothelial dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal dystrophy (FECD), are caused by SLC4A11 mutations. Three N-terminal SLC4A11 variants: v1, v2 and v3 are expressed in humans. We set out to deter...

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Detalles Bibliográficos
Autores principales: Malhotra, Darpan, Loganathan, Sampath K., Chiu, Anthony M., Lukowski, Chris M., Casey, Joseph R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609610/
https://www.ncbi.nlm.nih.gov/pubmed/31273259
http://dx.doi.org/10.1038/s41598-019-46094-y