title: British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
authors.affiliation: Division of Molecular Genetics, Institute of Ophthalmology, University College London, London, UK.
authors.forename: P
authors.initials: P
authors.lastname: Liskova
authors.forename: Q
authors.initials: Q
authors.lastname: Prescott
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: S J
authors.initials: SJ
authors.lastname: Tuft
mesh_terms: D000293:Adolescent; D000368:Aged; D019943:Amino Acid Substitution; D001483:Base Sequence; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D024102:Collagen Type VIII / Q000235:genetics*; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000235:genetics*; D006801:Humans; D007930:Leucine; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D014364:Tryptophan
chemical_list: C443712:COL8A2 protein, human; D024102:Collagen Type VIII; D014364:Tryptophan; D007930:Leucine