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Journal Abstract Search

305 related items for PubMed ID: 8257991

  • 1. Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletion.
    Eng B, Chui DH, Saunderson J, Olivieri NF, Waye JS.
    Hum Mutat; 1993; 2(5):375-9. PubMed ID: 8257991
    [Abstract] [Full Text] [Related]

  • 2. Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family.
    Yi P, Yu F, Huang S, Zhong C, Li Q, Yang Y, Zhang W, Xiao C, Xu X.
    Blood Cells Mol Dis; 2008; 41(1):56-9. PubMed ID: 18381244
    [Abstract] [Full Text] [Related]

  • 3. Spectrum of beta-thalassemia mutations and their association with allelic sequence polymorphisms at the beta-globin gene cluster in an Eastern Indian population.
    Kukreti R, Dash D, E VK, Chakravarty S, Das SK, De M, Talukder G.
    Am J Hematol; 2002 Aug; 70(4):269-77. PubMed ID: 12210807
    [Abstract] [Full Text] [Related]

  • 4. A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia.
    Feriotto G, Salvatori F, Finotti A, Breveglieri G, Venturi M, Zuccato C, Bianchi N, Borgatti M, Lampronti I, Mancini I, Massei F, Favre C, Gambari R.
    Acta Haematol; 2008 Aug; 119(1):28-37. PubMed ID: 18230963
    [Abstract] [Full Text] [Related]

  • 5. The spectrum of beta-thalassemia mutations in southern Thailand.
    Nopparatana C, Panich V, Saechan V, Sriroongrueng V, Nopparatana C, Rungjeadpha J, Pornpatkul M, Laosombat V, Fukumaki Y.
    Southeast Asian J Trop Med Public Health; 1995 Aug; 26 Suppl 1():229-34. PubMed ID: 8629112
    [Abstract] [Full Text] [Related]

  • 6. Two new beta0-thalassemic mutations: a deletion (-CC) at codon 142 or overlapping codons 142-143, and an insertion (+T) at codon 45 or overlapping codons 44-45/45-46 of the beta-globin gene.
    Lacan P, Aubry M, Couprie N, Francina A.
    Hemoglobin; 2007 Aug; 31(2):159-65. PubMed ID: 17486497
    [Abstract] [Full Text] [Related]

  • 7. A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA).
    Ghedira ES, Dupin-Deguine D, Duffilot D, Lemetayer N, Faubert E, Pissard S.
    Hemoglobin; 2011 Aug; 35(2):157-61. PubMed ID: 21417574
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of beta-globin gene mutations among thalassemia patients in the West Bank region of Palestine.
    Darwish HM, El-Khatib FF, Ayesh S.
    Hemoglobin; 2005 Aug; 29(2):119-32. PubMed ID: 15921164
    [Abstract] [Full Text] [Related]

  • 9. The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians.
    Garewal G, Das R, Awasthi A, Ahluwalia J, Marwaha RK.
    Eur J Haematol; 2007 Nov; 79(5):417-21. PubMed ID: 17900295
    [Abstract] [Full Text] [Related]

  • 10. [Most frequent beta-thalassemia mutations in the Argentinian population].
    Varela V, Abreu S, Rossetti LC, Targovnik H.
    Sangre (Barc); 1996 Apr; 41(2):137-40. PubMed ID: 9045354
    [Abstract] [Full Text] [Related]

  • 11. A novel frameshift mutation (+G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values.
    Mo QH, Li XR, Li CF, He YL, Xu XM.
    J Clin Pathol; 2005 Sep; 58(9):923-6. PubMed ID: 16126871
    [Abstract] [Full Text] [Related]

  • 12. A new frameshift mutation, insertion of ATCT, at codon 48 in the beta-globin gene causes beta-thalassemia in an Indian proband.
    Jain PK, Dozy AM, Verma IC, Chehab FF.
    Hum Mutat; 1994 Sep; 3(4):397-8. PubMed ID: 8081396
    [No Abstract] [Full Text] [Related]

  • 13. Dominantly Inherited beta-Thalassemia.
    Efremov GD.
    Hemoglobin; 2007 Sep; 31(2):193-207. PubMed ID: 17486503
    [Abstract] [Full Text] [Related]

  • 14.
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    [No Abstract] [Full Text] [Related]

  • 15. [Molecular nature of beta-thalassemia in Tajikistan: a four base pair deletion in codons 41-42 of the beta-globin gene].
    Kolesnikova TN, Surin VL, Moliaka IuK, Luk'ianenko AV, Tagiev AF, Asanov AIu, Bobokhodzhaev ZM, Solov'ev GIa.
    Genetika; 1992 Nov; 28(11):28-33. PubMed ID: 1286798
    [Abstract] [Full Text] [Related]

  • 16. A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC).
    Foulon K, Rochette J, Cadet E.
    Hemoglobin; 2007 Nov; 31(1):31-7. PubMed ID: 17365003
    [Abstract] [Full Text] [Related]

  • 17. A novel beta-thalassemia mutation (G-->A) at the initiation codon of the beta-globin gene.
    Saba L, Meloni A, Sardu R, Travi M, Primignani P, Rosatelli MC, Cao A.
    Hum Mutat; 1992 Nov; 1(5):420-2. PubMed ID: 1301952
    [No Abstract] [Full Text] [Related]

  • 18. A novel beta-thalassemia mutation: frameshift at codon 59 detected in an Italian carrier.
    Meloni A, Demurtas M, Moi L, Faà V, Cao A, Rosatelli MC.
    Hum Mutat; 1994 Nov; 3(3):309-11. PubMed ID: 8019567
    [No Abstract] [Full Text] [Related]

  • 19. Two missense mutations in the beta-globin gene can cause severe beta thalassemia. Hemoglobin Medicine Lake (beta 32[B14]leucine-->glutamine; 98 [FG5] valine-->methionine).
    Coleman MB, Lu ZH, Smith CM, Adams JG, Harrell A, Plonczynski M, Steinberg MH.
    J Clin Invest; 1995 Feb; 95(2):503-9. PubMed ID: 7860732
    [Abstract] [Full Text] [Related]

  • 20. Japanese beta zero-thalassemia: molecular characterization of a novel insertion causing a stop codon.
    Oshima K, Harano T, Harano K.
    Am J Hematol; 1996 May; 52(1):39-41. PubMed ID: 8638609
    [Abstract] [Full Text] [Related]

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