AF000573[Secondary Source ID] - Search Results

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1997	1
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Novel mutations in the homogentisate-1,2-dioxygenase gene identified in Slovak patients with alkaptonuria.

Zatková A, Polaková H, Micutková L, Zvarík M, Bosák V, Feráková E, Matusek J, Ferák V, Kádasi L. Zatková A, et al. J Med Genet. 2000 Jul;37(7):539-42. doi: 10.1136/jmg.37.7.539. J Med Genet. 2000. PMID: 10970188 Free PMC article. No abstract available.

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

Beltrán-Valero de Bernabé D, Jimenez FJ, Aquaron R, Rodríguez de Córdoba S. Beltrán-Valero de Bernabé D, et al. Am J Hum Genet. 1999 May;64(5):1316-22. doi: 10.1086/302376. Am J Hum Genet. 1999. PMID: 10205262 Free PMC article.

The human homogentisate 1,2-dioxygenase (HGO) gene.

Granadino B, Beltrán-Valero de Bernabé D, Fernández-Cañón JM, Peñalva MA, Rodríguez de Córdoba S. Granadino B, et al. Genomics. 1997 Jul 15;43(2):115-22. doi: 10.1006/geno.1997.4805. Genomics. 1997. PMID: 9244427

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