title: Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.
authors.forename: A
authors.initials: A
authors.lastname: Zatková
authors.forename: H
authors.initials: H
authors.lastname: Polaková
authors.forename: L
authors.initials: L
authors.lastname: Micutková
authors.forename: M
authors.initials: M
authors.lastname: Zvarík
authors.forename: V
authors.initials: V
authors.lastname: Bosák
authors.forename: E
authors.initials: E
authors.lastname: Feráková
authors.forename: J
authors.initials: J
authors.lastname: Matusek
authors.forename: V
authors.initials: V
authors.lastname: Ferák
authors.forename: L
authors.initials: L
authors.lastname: Kádasi
mesh_terms: D000474:Alkaptonuria / Q000235:genetics*; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D049308:Dioxygenases; D018703:Founder Effect; D005820:Genetic Testing; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D008969:Molecular Sequence Data; D010105:Oxygenases / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D016415:Sequence Alignment; D018154:Slovakia
chemical_list: D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase