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A novel point mutation associated with alkaptonuria.
PMID: 9630082 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Zatková A, de Bernabé DB, Poláková H, Zvarík M, Feráková E, Bosák V, Ferák V, Kádasi L, de Córdoba SR.
Am J Hum Genet. 2000 Nov; 67(5):1333-9. Epub 2000 Oct 2.
[Am J Hum Genet. 2000]
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Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
Felbor U, Mutsch Y, Grehn F, Müller CR, Kress W.
Br J Ophthalmol. 1999 Jun; 83(6):680-3.
[Br J Ophthalmol. 1999]
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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.
Am J Hum Genet. 1999 May; 64(5):1316-22.
[Am J Hum Genet. 1999]