title: Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.
authors.affiliation: a Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Prague , Czech Republic.
authors.forename: Lubica
authors.initials: L
authors.lastname: Dudakova
authors.affiliation: b Department of Ophthalmology, First Faculty of Medicine , Charles University in Prague and General Teaching Hospital in Prague , Prague , Czech Republic.
authors.forename: Michalis
authors.initials: M
authors.lastname: Palos
authors.affiliation: a Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Prague , Czech Republic.
authors.forename: Katerina
authors.initials: K
authors.lastname: Jirsova
authors.affiliation: b Department of Ophthalmology, First Faculty of Medicine , Charles University in Prague and General Teaching Hospital in Prague , Prague , Czech Republic.
authors.forename: Pavlina
authors.initials: P
authors.lastname: Skalicka
authors.affiliation: c Institute of Pathology, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Prague , Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Dundr
authors.affiliation: a Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Prague , Czech Republic.|b Department of Ophthalmology, First Faculty of Medicine , Charles University in Prague and General Teaching Hospital in Prague , Prague , Czech Republic.
authors.forename: Petra
authors.initials: P
authors.lastname: Liskova
mesh_terms: D003315:Cornea / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D015948:Keratoplasty, Penetrating; D008875:Middle Aged; D009154:Mutation; D016212:Transforming Growth Factor beta / Q000235:genetics*; D000099222:betaIG-H3 Protein
chemical_list: D016326:Extracellular Matrix Proteins; D016212:Transforming Growth Factor beta; D000099222:betaIG-H3 Protein