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Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

Fuchs corneal dystrophy (FCD) is a degenerative genetic disorder of the corneal endothelium that represents one of the most common causes of corneal transplantation in the United States. Despite its high prevalence (4% over the age of 40), the underlying genetic basis of FCD is largely unknown. Here...

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Detalhes bibliográficos
Main Authors: Riazuddin, S. Amer, Zaghloul, Norann A., Al-Saif, Amr, Davey, Lisa, Diplas, Bill H., Meadows, Danielle N., Eghrari, Allen O., Minear, Mollie A., Li, Yi-Ju, Klintworth, Gordon K., Afshari, Natalie, Gregory, Simon G., Gottsch, John D., Katsanis, Nicholas
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2010
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2801746/
https://ncbi.nlm.nih.gov/pubmed/20036349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2009.12.001
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