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Journal Abstract Search

444 related items for PubMed ID: 8188241

  • 1. The human gene for alkaptonuria (AKU) maps to chromosome 3q.
    Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guénet JL, Grimm T, Kress W, Müller CR.
    Genomics; 1994 Jan 01; 19(1):5-8. PubMed ID: 8188241
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  • 3. 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 01; 14(1):19-24. PubMed ID: 8782815
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  • 4. 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 01; 75(4):353-9. PubMed ID: 12051967
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  • 5. 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 30; 78(2):192-4. PubMed ID: 9674916
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  • 8. Alkaptonuria, ochronosis, and ochronotic arthropathy.
    Mannoni A, Selvi E, Lorenzini S, Giorgi M, Airó P, Cammelli D, Andreotti L, Marcolongo R, Porfirio B.
    Semin Arthritis Rheum; 2004 Feb 30; 33(4):239-48. PubMed ID: 14978662
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  • 9. Rapid detection methods for five HGO gene mutations causing alkaptonuria.
    Zatkova A, Chmelikova A, Polakova H, Ferakova E, Kadasi L.
    Clin Genet; 2003 Feb 30; 63(2):145-9. PubMed ID: 12630963
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  • 11. 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 30; 36(8):645-6. PubMed ID: 10465119
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  • 13. Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
    Goicoechea De Jorge E, Lorda I, Gallardo ME, Pérez B, Peréz De Ferrán C, Mendoza H, Rodríguez De Córdoba S.
    J Med Genet; 2002 Jul 30; 39(7):E40. PubMed ID: 12114497
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  • 16. Alkaptonuria presenting with ochronotic spondyloarthropathy.
    Al-Mahfoudh R, Clark S, Buxton N.
    Br J Neurosurg; 2008 Dec 30; 22(6):805-7. PubMed ID: 19085367
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  • 20. Alkaptonuria: tracked down to chromosome 3.
    McKusick VA.
    Genomics; 1994 Jan 01; 19(1):3-4. PubMed ID: 8188236
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