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2. Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online. Manning K; Fernández-Cañón JM; Montagutelli X; Grompe M Hum Mutat; 1999; 13(2):171. PubMed ID: 10094559 [TBL] [Abstract][Full Text] [Related]
3. 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 J Med Genet; 2000 Jul; 37(7):539-42. PubMed ID: 10970188 [No Abstract] [Full Text] [Related]
4. Sequence analysis of the homogentisate 1,2 dioxygenase gene in a family affected by alkaptonuria. Walter K; Gaa A; Schaefer HE J Med Genet; 1999 Aug; 36(8):645-6. PubMed ID: 10465119 [No Abstract] [Full Text] [Related]
5. The molecular basis of alkaptonuria. Fernández-Cañón JM; Granadino B; Beltrán-Valero de Bernabé D; Renedo M; Fernández-Ruiz E; Peñalva MA; Rodríguez de Córdoba S Nat Genet; 1996 Sep; 14(1):19-24. PubMed ID: 8782815 [TBL] [Abstract][Full Text] [Related]
6. Molecular diagnosis of alkaptonuria mutation by analysis of homogentisate 1,2 dioxygenase mRNA from urine and blood. Ramos SM; Hernández M; Roces A; Larruga JM; González P; González AM; Pinto FM; Cabrera VM Am J Med Genet; 1998 Jun; 78(2):192-4. PubMed ID: 9674916 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 10205262 [TBL] [Abstract][Full Text] [Related]
13. Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. Uyguner O; Goicoechea de Jorge E; Cefle A; Baykal T; Kayserili H; Cefle K; Demirkol M; Yuksel-Apak M; Rodriguez de Córdoba S; Wollnik B J Inherit Metab Dis; 2003; 26(1):17-23. PubMed ID: 12872836 [TBL] [Abstract][Full Text] [Related]
14. Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy. Nemethova M; Radvanszky J; Kadasi L; Ascher DB; Pires DE; Blundell TL; Porfirio B; Mannoni A; Santucci A; Milucci L; Sestini S; Biolcati G; Sorge F; Aurizi C; Aquaron R; Alsbou M; Lourenço CM; Ramadevi K; Ranganath LR; Gallagher JA; van Kan C; Hall AK; Olsson B; Sireau N; Ayoob H; Timmis OG; Sang KH; Genovese F; Imrich R; Rovensky J; Srinivasaraghavan R; Bharadwaj SK; Spiegel R; Zatkova A Eur J Hum Genet; 2016 Jan; 24(1):66-72. PubMed ID: 25804398 [TBL] [Abstract][Full Text] [Related]
15. Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype. Srsen S; Müller CR; Fregin A; Srsnova K Mol Genet Metab; 2002 Apr; 75(4):353-9. PubMed ID: 12051967 [TBL] [Abstract][Full Text] [Related]
16. Structural and functional analysis of mutations in alkaptonuria. Rodríguez JM; Timm DE; Titus GP; Beltrán-Valero De Bernabé D; Criado O; Mueller HA; Rodríguez De Córdoba S; Peñalva MA Hum Mol Genet; 2000 Sep; 9(15):2341-50. PubMed ID: 11001939 [TBL] [Abstract][Full Text] [Related]
17. Mutational analysis of the HGO gene in Finnish alkaptonuria patients. Beltrán-Valero de Bernabé D; Peterson P; Luopajärvi K; Matintalo P; Alho A; Konttinen Y; Krohn K; Rodríguez de Córdoba S; Ranki A J Med Genet; 1999 Dec; 36(12):922-3. PubMed ID: 10594001 [TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 11017803 [TBL] [Abstract][Full Text] [Related]