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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1998 Apr;62(4):765–767. doi: 10.1086/301810

Are we ready to try to cure alkaptonuria?

B N La Du Jr 1
PMCID: PMC1377048  PMID: 9529368

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. 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. Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet. 1998 Apr;62(4):776–784. doi: 10.1086/301805. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Fernández-Cañn J. M., Granadino B., Beltrán-Valero de Bernabé D., Renedo M., Fernández-Ruiz E., Peñalva M. A., Rodríguez de Córdoba S. The molecular basis of alkaptonuria. Nat Genet. 1996 Sep;14(1):19–24. doi: 10.1038/ng0996-19. [DOI] [PubMed] [Google Scholar]
  3. Gehrig A., Schmidt S. R., Müller C. R., Srsen S., Srsnova K., Kress W. Molecular defects in alkaptonuria. Cytogenet Cell Genet. 1997;76(1-2):14–16. doi: 10.1159/000134501. [DOI] [PubMed] [Google Scholar]
  4. Granadino B., Beltrán-Valero de Bernabé D., Fernández-Cañn J. M., Peñalva M. A., Rodríguez de Córdoba S. The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics. 1997 Jul 15;43(2):115–122. doi: 10.1006/geno.1997.4805. [DOI] [PubMed] [Google Scholar]
  5. LA DU B. N., ZANNONI V. G., LASTER L., SEEGMILLER J. E. The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem. 1958 Jan;230(1):251–260. [PubMed] [Google Scholar]
  6. Montagutelli X., Lalouette A., Coudé M., Kamoun P., Forest M., Guénet J. L. aku, a mutation of the mouse homologous to human alkaptonuria, maps to chromosome 16. Genomics. 1994 Jan 1;19(1):9–11. doi: 10.1006/geno.1994.1004. [DOI] [PubMed] [Google Scholar]

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