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Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4

Fuchs corneal dystrophy (FCD) is a hereditary dystrophy of the corneal endothelium and is responsible for majority of the corneal transplantation performed in the United States. Here, we describe three generations of a family with 12 individuals affected by late-onset FCD and in which three individu...

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Detalhes bibliográficos
Main Authors: Riazuddin, S. Amer, Vasanth, Shivakumar, Katsanis, Nicholas, Gottsch, John D.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3791265/
https://ncbi.nlm.nih.gov/pubmed/24094747
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.08.010
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