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Journal Abstract Search

155 related items for PubMed ID: 2991926

  • 1.
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  • 2. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals.
    Tsuji S, Martin BM, Barranger JA, Stubblefield BK, LaMarca ME, Ginns EI.
    Proc Natl Acad Sci U S A; 1988 Apr; 85(7):2349-52. PubMed ID: 3353383
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  • 3. Gaucher disease associated with a unique KpnI restriction site: identification of the amino-acid substitution.
    Beutler E, Gelbart T.
    Ann Hum Genet; 1990 May; 54(2):149-53. PubMed ID: 1974409
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  • 4. Restriction fragment length polymorphism analysis in healthy Japanese individuals and Japanese families with Gaucher disease.
    Masuno M, Orii T, Sukegawa K, Taga T.
    Acta Paediatr Jpn; 1989 Apr; 31(2):158-62. PubMed ID: 2576337
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  • 5. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
    Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E.
    J Clin Invest; 1990 Jan; 85(1):219-22. PubMed ID: 2295698
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  • 6. [Glucocerebrosidase deficiency--Gaucher's disease].
    Tsuji S.
    Tanpakushitsu Kakusan Koso; 1988 Apr; 33(5):728-33. PubMed ID: 2908399
    [No Abstract] [Full Text] [Related]

  • 7. Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations.
    Grace ME, Graves PN, Smith FI, Grabowski GA.
    J Biol Chem; 1990 Apr 25; 265(12):6827-35. PubMed ID: 2324100
    [Abstract] [Full Text] [Related]

  • 8. The N370S mutation in the glucocerebrosidase gene of Portuguese type 1 Gaucher patients: linkage to the PvuII polymorphism.
    Lacerda L, Amaral O, Pinto R, Aerts J, Sá Miranda MC.
    J Inherit Metab Dis; 1994 Apr 25; 17(1):85-8. PubMed ID: 8051940
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  • 9. 1448C mutation linked to the Pv1.1- genotype in Italian patients with Gaucher disease.
    Tuteja R, Bembi B, Agosti E, Baralle FE.
    Hum Mol Genet; 1993 Jun 25; 2(6):781-4. PubMed ID: 8102572
    [Abstract] [Full Text] [Related]

  • 10. Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.
    Dahl N, Erikson A, Hammarström-Heeroma K, Pettersson U.
    Genomics; 1988 Nov 25; 3(4):296-8. PubMed ID: 2468600
    [Abstract] [Full Text] [Related]

  • 11. Novel point mutation (W184R) in neonatal type 2 Gaucher disease.
    Choy FY, Wong K, Vallance HD, Baldwin V.
    Pediatr Dev Pathol; 2000 Nov 25; 3(2):180-3. PubMed ID: 10679038
    [Abstract] [Full Text] [Related]

  • 12. Polymorphisms in the human glucocerebrosidase gene.
    Beutler E, West C, Gelbart T.
    Genomics; 1992 Apr 25; 12(4):795-800. PubMed ID: 1572652
    [Abstract] [Full Text] [Related]

  • 13. Complex alleles of the acid beta-glucosidase gene in Gaucher disease.
    Latham T, Grabowski GA, Theophilus BD, Smith FI.
    Am J Hum Genet; 1990 Jul 25; 47(1):79-86. PubMed ID: 2349952
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  • 17. Sequence of two alleles responsible for Gaucher disease.
    Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA.
    DNA Cell Biol; 1990 May 25; 9(4):233-41. PubMed ID: 1972019
    [Abstract] [Full Text] [Related]

  • 18. Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient.
    Choy FY, Humphries ML, Ferreira P.
    Am J Med Genet; 1997 Jan 20; 68(2):211-5. PubMed ID: 9028460
    [Abstract] [Full Text] [Related]

  • 19. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.
    Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, Ginns EI.
    N Engl J Med; 1987 Mar 05; 316(10):570-5. PubMed ID: 2880291
    [Abstract] [Full Text] [Related]

  • 20. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
    Beutler E, Gelbart T, Kuhl W, Sorge J, West C.
    Proc Natl Acad Sci U S A; 1991 Dec 01; 88(23):10544-7. PubMed ID: 1961718
    [Abstract] [Full Text] [Related]

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