Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

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 arthrit...

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Detalhes bibliográficos
Main Authors: Beltrán-Valero de Bernabé, D, Granadino, B, Chiarelli, I, Porfirio, B, Mayatepek, E, Aquaron, R, Moore, M M, Festen, J J, Sanmartí, R, Peñalva, M A, de Córdoba, S R
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377044/
https://ncbi.nlm.nih.gov/pubmed/9529363
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