title: Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
abstract: Alkaptonuria (AKU), the prototypic inborn error of metabolism, has recently been shown to be caused by loss of function mutations in the homogentisate-1,2-dioxygenase gene (HGO). So far 17 mutations have been characterised in AKU patients of different ethnic origin. We describe three novel mutations (R58fs, R330S, and H371R) and one common AKU mutation (M368V), detected by mutational and polymorphism analysis of the HGO gene in five Finnish AKU pedigrees. The three novel AKU mutations are most likely specific for the Finnish population and have originated recently.
authors.affiliation: Departamento de Inmunología, CIB (CSIC), and Unidad de Patología Molecular, Fundación Jiménez Díaz, Madrid, Spain.
authors.forename: D
authors.initials: D
authors.lastname: Beltrán-Valero de Bernabé
authors.forename: P
authors.initials: P
authors.lastname: Peterson
authors.forename: K
authors.initials: K
authors.lastname: Luopajärvi
authors.forename: P
authors.initials: P
authors.lastname: Matintalo
authors.forename: A
authors.initials: A
authors.lastname: Alho
authors.forename: Y
authors.initials: Y
authors.lastname: Konttinen
authors.forename: K
authors.initials: K
authors.lastname: Krohn
authors.forename: S
authors.initials: S
authors.lastname: Rodríguez de Córdoba
authors.forename: A
authors.initials: A
authors.lastname: Ranki
mesh_terms: D000474:Alkaptonuria / Q000208:ethnology / Q000235:genetics*; D004252:DNA Mutational Analysis; D049308:Dioxygenases; D005387:Finland; D050560:Homogentisate 1,2-Dioxygenase; D006801:Humans; D009154:Mutation; D010105:Oxygenases / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D010105:Oxygenases; D049308:Dioxygenases; D050560:Homogentisate 1,2-Dioxygenase