Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Unidad de Patología Molecular, Fundación Jiménez Díaz, Av Reyes Católicos 2, 28040 Madrid, Spain.
E
E
Goicoechea De Jorge
I
I
Lorda
M E
ME
Gallardo
B
B
Pérez
C
C
Peréz De Ferrán
H
H
Mendoza
S
S
Rodríguez De Córdoba
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