Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.
Porfirio
B
B
Chiarelli
I
I
Graziano
C
C
Mannoni
A
A
Morrone
A
A
Zammarchi
E
E
De Bernabé
D B
DB
De Córdoba
S R
SR
D000328:Adult; D000474:Alkaptonuria / Q000201:enzymology / Q000235:genetics*; D049308:Dioxygenases; D018740:Genetic Heterogeneity; D006239:Haplotypes; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D007558:Italy; D020125:Mutation, Missense; D010105:Oxygenases / Q000235:genetics*; D011110:Polymorphism, Genetic
D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase