Missense mutations in the sodium borate co-transporter SLC4A11 cause late onset Fuchs corneal dystrophy

Homozygous mutations in the sodium-bicarbonate transporter SLC4A11 cause two early onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome. More recently, four sporadic patients with late onset Fuchs corneal dystrophy (FCD), a common age-related disorder,...

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Main Authors: Riazuddin, S. Amer, Vithana, Eranga N., Seet, Li-Fong, Liu, Yangjian, Al-Saif, Amr, Koh, Li Wei, Heng, Yee Meng, Aung, Tin, Meadows, Danielle N., Eghrari, Allen O., Gottsch, John D., Katsanis, Nicholas
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2970683/
https://ncbi.nlm.nih.gov/pubmed/20848555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21356
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