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Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy

PURPOSE: The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1)...

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Publicat a:Invest Ophthalmol Vis Sci
Autors principals: Mootha, V. Vinod, Hansen, Brock, Rong, Ziye, Mammen, Pradeep P., Zhou, Zhengyang, Xing, Chao, Gong, Xin
Format: Artigo
Idioma:Inglês
Publicat: The Association for Research in Vision and Ophthalmology 2017
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5590687/
https://ncbi.nlm.nih.gov/pubmed/28886202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.17-22350
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