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Journal Abstract Search

185 related items for PubMed ID: 1928090

  • 1. Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.
    Brooks CC, Buist N, Tuerck J, Tolan DR.
    Am J Hum Genet; 1991 Nov; 49(5):1075-81. PubMed ID: 1928090
    [Abstract] [Full Text] [Related]

  • 2. Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.
    Brooks CC, Tolan DR.
    Am J Hum Genet; 1993 Apr; 52(4):835-40. PubMed ID: 8096362
    [Abstract] [Full Text] [Related]

  • 3. A partially active mutant aldolase B from a patient with hereditary fructose intolerance.
    Brooks CC, Tolan DR.
    FASEB J; 1994 Jan; 8(1):107-13. PubMed ID: 8299883
    [Abstract] [Full Text] [Related]

  • 4. Molecular evidence for compound heterozygosity in hereditary fructose intolerance.
    Dazzo C, Tolan DR.
    Am J Hum Genet; 1990 Jun; 46(6):1194-9. PubMed ID: 2339710
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  • 5. Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation.
    Cross NC, Tolan DR, Cox TM.
    Cell; 1988 Jun 17; 53(6):881-5. PubMed ID: 3383242
    [Abstract] [Full Text] [Related]

  • 6. Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
    Sebastio G, de Franchis R, Strisciuglio P, Andria G, Dionisi Vici C, Sabetta G, Gatti R, Cross NC, Cox TM.
    J Med Genet; 1991 Apr 17; 28(4):241-3. PubMed ID: 1856829
    [Abstract] [Full Text] [Related]

  • 7. The molecular basis of hereditary fructose intolerance in Italian children.
    Santamaria R, Scarano MI, Esposito G, Chiandetti L, Izzo P, Salvatore F.
    Eur J Clin Chem Clin Biochem; 1993 Oct 17; 31(10):675-8. PubMed ID: 8292669
    [Abstract] [Full Text] [Related]

  • 8. Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.
    Ali M, Tunçman G, Cross NC, Vidailhet M, Bökesoy I, Gitzelmann R, Cox TM.
    J Med Genet; 1994 Jun 17; 31(6):499-503. PubMed ID: 8071980
    [Abstract] [Full Text] [Related]

  • 9. Neonatal screening for hereditary fructose intolerance: frequency of the most common mutant aldolase B allele (A149P) in the British population.
    James CL, Rellos P, Ali M, Heeley AF, Cox TM.
    J Med Genet; 1996 Oct 17; 33(10):837-41. PubMed ID: 8933337
    [Abstract] [Full Text] [Related]

  • 10. Molecular analysis of aldolase B genes in hereditary fructose intolerance.
    Cross NC, de Franchis R, Sebastio G, Dazzo C, Tolan DR, Gregori C, Odievre M, Vidailhet M, Romano V, Mascali G.
    Lancet; 1990 Feb 10; 335(8685):306-9. PubMed ID: 1967768
    [Abstract] [Full Text] [Related]

  • 11. Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans.
    Tolan DR, Brooks CC.
    Biochem Med Metab Biol; 1992 Aug 10; 48(1):19-25. PubMed ID: 1524867
    [Abstract] [Full Text] [Related]

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  • 15. Isolation and characterization of a mutant liver aldolase in adult hereditary fructose intolerance. Identification of the enzyme variant by radioassay in tissue biopsy specimens.
    Cox TM, O'Donnell MW, Camilleri M, Burghes AH.
    J Clin Invest; 1983 Jul 10; 72(1):201-13. PubMed ID: 6348085
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  • 17. Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.
    Santamaria R, Tamasi S, Del Piano G, Sebastio G, Andria G, Borrone C, Faldella G, Izzo P, Salvatore F.
    J Med Genet; 1996 Sep 10; 33(9):786-8. PubMed ID: 8880583
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  • 18. Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.
    Kajihara S, Mukai T, Arai Y, Owada M, Kitagawa T, Hori K.
    Am J Hum Genet; 1990 Sep 10; 47(3):562-7. PubMed ID: 2203259
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  • 20. Molecular analysis of aldolase B genes in the diagnosis of hereditary fructose intolerance in the United Kingdom.
    Cross NC, Cox TM.
    Q J Med; 1989 Nov 10; 73(271):1015-20. PubMed ID: 2623136
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