Ontology highlight
ABSTRACT:
SUBMITTER: Beltran-Valero de Bernabe D
PROVIDER: S-EPMC1377044 | biostudies-other | 1998 Apr
REPOSITORIES: biostudies-other
Beltrán-Valero de Bernabé D D Granadino B B Chiarelli I I Porfirio B B Mayatepek E E Aquaron R R Moore M M MM Festen J J JJ Sanmartí R R Peñalva M A MA de Córdoba S R SR
American journal of human genetics 19980401 4
Alkaptonuria (AKU), a rare hereditary disorder of phenylalanine and tyrosine catabolism, was the first disease to be interpreted as an inborn error of metabolism. AKU patients are deficient for homogentisate 1,2 dioxygenase (HGO); this deficiency causes homogentisic aciduria, ochronosis, and arthritis. We cloned the human HGO gene and characterized two loss-of-function mutations, P230S and V300G, in the HGO gene in AKU patients. Here we report haplotype and mutational analysis of the HGO gene in ...[more]