Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Goicoechea De Jorge
E
E
Unidad de Patología Molecular, Fundación Jiménez Díaz, Av Reyes Católicos 2, 28040 Madrid, Spain.
Lorda
I
I
Gallardo
M E
ME
Pérez
B
B
Peréz De Ferrán
C
C
Mendoza
H
H
Rodríguez De Córdoba
S
S
D000368:Aged; D000474:Alkaptonuria / Q000201:enzymology / Q000453:epidemiology* / Q000235:genetics*; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D049308:Dioxygenases; D004293:Dominican Republic / Q000453:epidemiology; D018703:Founder Effect; D006580:Genetic Carrier Screening; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D008297:Male; D009061:Mouth Mucosa / Q000737:chemistry / Q000166:cytology; D016296:Mutagenesis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010105:Oxygenases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
D004247:DNA; D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase