Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.
Zatková
A
A
Polaková
H
H
Micutková
L
L
Zvarík
M
M
Bosák
V
V
Feráková
E
E
Matusek
J
J
Ferák
V
V
Kádasi
L
L
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
D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase