title: Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.
authors.affiliation: 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 .
authors.forename: Lubica
authors.initials: L
authors.lastname: Dudakova
authors.forename: Michalis
authors.initials: M
authors.lastname: Palos
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
authors.forename: Petra
authors.initials: P
authors.lastname: Liskova
mesh_terms: D002452:Cell Count; D018389:Codon, Nonsense; D003315:Cornea / Q000002:abnormalities*; D003316:Corneal Diseases / Q000175:diagnosis / Q000235:genetics*; D004728:Endothelium, Corneal / Q000473:pathology*; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D006956:Hyperopia; D008875:Middle Aged; D020125:Mutation, Missense; D011509:Proteoglycans / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; C490948:KERA protein, human; D011509:Proteoglycans