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...

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Vydáno v:PLoS One
Hlavní autoři: Medina-Trillo, Cristina, Sánchez-Sánchez, Francisco, Aroca-Aguilar, José-Daniel, Ferre-Fernández, Jesús-José, Morales, Laura, Méndez-Hernández, Carmen-Dora, Blanco-Kelly, Fiona, Ayuso, Carmen, García-Feijoo, Julián, Escribano, Julio
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2015
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4364892/
https://ncbi.nlm.nih.gov/pubmed/25786029
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0119272
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