R125H, W240S, C386R, and V507I SLC4A11 Mutations Associated with Corneal Endothelial Dystrophy Affect the Transporter Function but not Trafficking in PS120 cells

SLC4A11 mutations are associated with Fuchs’ endothelial corneal dystrophy (FECD), congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome (endothelial dystrophy with auditory deficiency). Mice with genetically ablated Slc4a11 recapitulate CHED, exhibiting significant corneal edema...

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Detaylı Bibliyografya
Yayımlandı:Exp Eye Res
Asıl Yazarlar: Li, Shimin, Hundal, Karmjot Singh, Chen, Xingjuan, Choi, Moonjung, Ogando, Diego G., Obukhov, Alexander G., Bonanno, Joseph A.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2018
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6389376/
https://ncbi.nlm.nih.gov/pubmed/30557570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exer.2018.12.003
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