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SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial Dystrophy

Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disorder of the corneal endothelium characterized by nonprogressive bilateral corneal edema and opacification present at birth. Here we review the current knowledge on the role of the SLC4A11 gene, protein, and its muta...

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Detalles Bibliográficos
Autores principales: Patel, Sangita P., Parker, Mark D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588344/
https://www.ncbi.nlm.nih.gov/pubmed/26451371
http://dx.doi.org/10.1155/2015/475392