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Journal Abstract Search


759 related items for PubMed ID: 17516066

  • 1. A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia.
    Chen XW, Mo QH, Li Q, Zeng R, Xu XM.
    Ann Hematol; 2007 Sep; 86(9):653-7. PubMed ID: 17516066
    [Abstract] [Full Text] [Related]

  • 2. Beta-thalassemia intermedia due to compound heterozygosity for two beta-globin gene promoter mutations, including a novel TATA box deletion.
    Basran RK, Reiss UM, Luo HY, Ware RE, Chui DH.
    Pediatr Blood Cancer; 2008 Feb; 50(2):363-6. PubMed ID: 16732578
    [Abstract] [Full Text] [Related]

  • 3. 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 Feb; 41(1):56-9. PubMed ID: 18381244
    [Abstract] [Full Text] [Related]

  • 4. [A rare transcription mutation (-90 C-->T) in a Chinese family with beta-thalassemia].
    Li WJ, Lao XW, Jai SQ, Liang FA, Mo QH, Ma JY, Xu XM.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2003 Dec; 20(6):468-70. PubMed ID: 14669211
    [Abstract] [Full Text] [Related]

  • 5. Mutational spectrum of delta-globin gene in the Portuguese population.
    Morgado A, Picanço I, Gomes S, Miranda A, Coucelo M, Seuanes F, Seixas MT, Romão L, Faustino P.
    Eur J Haematol; 2007 Nov; 79(5):422-8. PubMed ID: 17916081
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. Silent thalassemias: genotypes and phenotypes.
    Bianco I, Cappabianca MP, Foglietta E, Lerone M, Deidda G, Morlupi L, Grisanti P, Ponzini D, Rinaldi S, Graziani B.
    Haematologica; 1997 Nov; 82(3):269-80. PubMed ID: 9234571
    [Abstract] [Full Text] [Related]

  • 8. Haplotypes linked to three rare beta-thalassemia mutations, originally reported in Tunisia.
    Bibi A, Messaoud T, Fattoum S.
    Hemoglobin; 2006 Nov; 30(2):175-81. PubMed ID: 16798642
    [Abstract] [Full Text] [Related]

  • 9. A novel beta-delta globin gene fusion, anti-Lepore Hong Kong, leads to overexpression of delta globin chain and a mild thalassaemia intermedia phenotype when co-inherited with beta(0)-thalassaemia.
    So CC, Chan AY, Tsang ST, Lee AC, Au WY, Ma ES, Chan LC.
    Br J Haematol; 2007 Jan; 136(1):158-62. PubMed ID: 17222202
    [Abstract] [Full Text] [Related]

  • 10. First Spanish case of thalassemia major due to a compound heterozygosity for the IVS-II-848 (C --> A) and codon 39 (C --> T) mutations of the beta-globin gene.
    Ropero P, Villegas A, Muñoz J, Briceño O, Mora A, Salvador M, Polo M, González FA.
    Hemoglobin; 2006 Jan; 30(1):15-21. PubMed ID: 16540410
    [Abstract] [Full Text] [Related]

  • 11. Nucleotide -88 (C-T) promoter mutation is a common beta-thalassemia mutation in the Jat Sikhs of Punjab, India.
    Garewal G, Das R, Ahluwalia J, Marwaha RK, Varma S.
    Am J Hematol; 2005 Aug; 79(4):252-6. PubMed ID: 16044458
    [Abstract] [Full Text] [Related]

  • 12. Identification of the linkage of a 1.357 KB beta-globin gene deletion and A gamma-globin gene triplication in a Chinese family.
    Lou JW, Li Q, Wei XF, Huang JW, Xu XM.
    Hemoglobin; 2010 Aug; 34(4):343-53. PubMed ID: 20642332
    [Abstract] [Full Text] [Related]

  • 13. A rare beta-thalassaemia mutation (C-T) at position -90 of the beta-globin gene discovered in a Chinese family.
    Jia S, Lao X, Li W, Ma J, Mo Q, Xu X.
    Haematologica; 2003 Oct; 88(10):1191-3. PubMed ID: 14555318
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia.
    Huang G, Jiang WL, Rong KB, Li YX, Luo XL, Meng JX, Yu XY.
    Hemoglobin; 2010 Jan; 34(2):179-83. PubMed ID: 20353356
    [Abstract] [Full Text] [Related]

  • 16. Beta-thalassemia intermedia due to two novel mutations in the promoter region of the beta-globin gene.
    Agouti I, Bennani M, Nezri M, Levy N, Badens C.
    Eur J Haematol; 2008 Apr; 80(4):346-50. PubMed ID: 18081706
    [Abstract] [Full Text] [Related]

  • 17. Molecular epidemiological study of alpha- and beta-thalassemia in Sihui city.
    Tan JR, Li WJ, Ma JY, Mo QH, Li LY, Jia SQ, Lao XW, Li LY, He RQ, Xu XM.
    Di Yi Jun Yi Da Xue Xue Bao; 2003 Jul; 23(7):716-9. PubMed ID: 12865230
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. [The molecular basis of dominantly inherited beta-thalassemia].
    Faustino P, Barbot J, Gonçalves J, Peres MJ, Lavinha J.
    Acta Med Port; 1999 Sep; 12(7-11):293-6. PubMed ID: 10707468
    [Abstract] [Full Text] [Related]

  • 20. [Molecular analysis of beta-thalassemia intermedia in Guangdong Province].
    Zhang L, Ou XB, Yu YP.
    Zhongguo Dang Dai Er Ke Za Zhi; 2007 Aug; 9(4):358-60. PubMed ID: 17706040
    [Abstract] [Full Text] [Related]


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