Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
Dominant glaucoma, a heterogeneous, infrequent and irreversible optic neuropathy, is often associated with elevated intraocular pressure and early-onset. The role of FOXC1 in this type of glaucoma was investigated in twelve Spanish probands via nucleotide variation screening of its proximal promoter...
Main Authors: | Cristina Medina-Trillo, Francisco Sánchez-Sánchez, José-Daniel Aroca-Aguilar, Jesús-José Ferre-Fernández, Laura Morales, Carmen-Dora Méndez-Hernández, Fiona Blanco-Kelly, Carmen Ayuso, Julián García-Feijoo, Julio Escribano |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2015-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC4364892?pdf=render |
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