BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 8880583)

  • 1. 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; 33(9):786-8. PubMed ID: 8880583
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 28(4):241-3. PubMed ID: 1856829
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.
    Esposito G; Santamaria R; Vitagliano L; Ieno L; Viola A; Fiori L; Parenti G; Zancan L; Zagari A; Salvatore F
    Hum Mutat; 2004 Dec; 24(6):534. PubMed ID: 15532022
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 53(6):881-5. PubMed ID: 3383242
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Simple method for detection of mutations causing hereditary fructose intolerance.
    Kullberg-Lindh C; Hannoun C; Lindh M
    J Inherit Metab Dis; 2002 Nov; 25(7):571-5. PubMed ID: 12638940
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain.
    Sánchez-Gutiérrez JC; Benlloch T; Leal MA; Samper B; García-Ripoll I; Felíu JE
    J Med Genet; 2002 Sep; 39(9):e56. PubMed ID: 12205126
    [No Abstract]   [Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase.
    Santamaria R; Esposito G; Vitagliano L; Race V; Paglionico I; Zancan L; Zagari A; Salvatore F
    Biochem J; 2000 Sep; 350 Pt 3(Pt 3):823-8. PubMed ID: 10970798
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.
    Esposito G; Imperato MR; Ieno L; Sorvillo R; Benigno V; Parenti G; Parini R; Vitagliano L; Zagari A; Salvatore F
    Hum Mutat; 2010 Dec; 31(12):1294-303. PubMed ID: 20848650
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Partial aldolase B gene deletions in hereditary fructose intolerance.
    Cross NC; Cox TM
    Am J Hum Genet; 1990 Jul; 47(1):101-6. PubMed ID: 2349937
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.
    Chi ZN; Hong J; Yang J; Zhang HJ; Dai M; Cui B; Zhang Y; Gu WQ; Zhang YF; Liu QR; Wang WQ; Li XY; Ning G
    Endocrine; 2007 Aug; 32(1):122-6. PubMed ID: 17955389
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 335(8685):306-9. PubMed ID: 1967768
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case report: heterogeneity of aldolase B in hereditary fructose intolerance.
    Kaiser UB; Hegele RA
    Am J Med Sci; 1991 Dec; 302(6):364-8. PubMed ID: 1772121
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel six-nucleotide deletion in the hepatic fructose-1,6-bisphosphate aldolase gene in a patient with hereditary fructose intolerance and enzyme structure-function implications.
    Santamaria R; Vitagliano L; Tamasi S; Izzo P; Zancan L; Zagari A; Salvatore F
    Eur J Hum Genet; 1999; 7(4):409-14. PubMed ID: 10352930
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Diverse mutations in the aldolase B gene that underlie the prevalence of hereditary fructose intolerance.
    Ali M; Cox TM
    Am J Hum Genet; 1995 Apr; 56(4):1002-5. PubMed ID: 7717389
    [No Abstract]   [Full Text] [Related]  

  • 19. 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; 31(10):675-8. PubMed ID: 8292669
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of a novel mutation (Leu 256-->Pro) in the human aldolase B gene associated with hereditary fructose intolerance.
    Ali M; Sebastio G; Cox TM
    Hum Mol Genet; 1994 Jan; 3(1):203-4. PubMed ID: 8162030
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.