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Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases

Three genetic corneal dystrophies [congenital hereditary endothelial dystrophy type 2 (CHED2), Harboyan syndrome and Fuchs endothelial corneal dystrophy] arise from mutations of the SLC4a11 gene, which cause blindness from fluid accumulation in the corneal stroma. Selective transmembrane water condu...

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Detalles Bibliográficos
Autores principales: Vilas, Gonzalo L., Loganathan, Sampath K., Liu, Jun, Riau, Andri K., Young, James D., Mehta, Jodhbir S., Vithana, Eranga N., Casey, Joseph R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3889808/
https://www.ncbi.nlm.nih.gov/pubmed/23813972
http://dx.doi.org/10.1093/hmg/ddt307