title: Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.
authors.forename: B
authors.initials: B
authors.lastname: Porfirio
authors.forename: I
authors.initials: I
authors.lastname: Chiarelli
authors.forename: C
authors.initials: C
authors.lastname: Graziano
authors.forename: A
authors.initials: A
authors.lastname: Mannoni
authors.forename: A
authors.initials: A
authors.lastname: Morrone
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: D B
authors.initials: DB
authors.lastname: De Bernabé
authors.forename: S R
authors.initials: SR
authors.lastname: De Córdoba
mesh_terms: 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
chemical_list: D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase