Variants in ASB10 are associated with open-angle glaucoma

The molecular events responsible for obstruction of aqueous humor outflow and the loss of retinal ganglion cells in glaucoma, one of the main causes of blindness worldwide, remain poorly understood. We identified a synonymous variant, c.765C>T (Thr255Thr), in ankyrin repeats and suppressor of cyt...

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Auteurs principaux: Pasutto, Francesca, Keller, Kate E., Weisschuh, Nicole, Sticht, Heinrich, Samples, John R., Yang, Yong-Feng, Zenkel, Matthias, Schlötzer-Schrehardt, Ursula, Mardin, Christian Y., Frezzotti, Paolo, Edmunds, Beth, Kramer, Patricia L., Gramer, Eugen, Reis, André, Acott, Ted S., Wirtz, Mary K.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2012
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3284122/
https://ncbi.nlm.nih.gov/pubmed/22156576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr572
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