Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.
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Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophiesThe PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate genePosterior polymorphous corneal dystrophy 3 is associated with agenesis and hypoplasia of the corpus callosumTranscriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Genetics of the corneal endothelial dystrophies: an evidence-based review.High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.Transcriptome analysis of the human corneal endothelium.Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophyMolecular bases of corneal endothelial dystrophies.Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.Exclusion of pathogenic promoter region variants and identification of novel nonsense mutations in the zinc finger E-box binding homeobox 1 gene in posterior polymorphous corneal dystrophy.The genetics of Fuchs' corneal dystrophyHeterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.
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Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 03 December 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Phenotypic characterisation an ...... y in a New Zealand population.
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Phenotypic characterisation an ...... y in a New Zealand population.
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Phenotypic characterisation an ...... y in a New Zealand population.
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Phenotypic characterisation an ...... y in a New Zealand population.
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Phenotypic characterisation an ...... y in a New Zealand population.
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Phenotypic characterisation an ...... y in a New Zealand population.
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Phenotypic characterisation an ...... y in a New Zealand population.
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Amanda Richards
Andrea L Vincent
Betina Karolyi
Charles N J McGhee
Dipika V Patel
Rachael L Niederer
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2009-12-03T00:00:00Z