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Journal Abstract Search

556 related items for PubMed ID: 17654068

  • 41. HB Hillingdon [alpha46(CE4)Phe-->Val (alpha1 Or alpha2)]: a new alpha chain hemoglobin variant.
    Babb A, Solaiman S, Green BN, Mantio D, Patel K.
    Hemoglobin; 2009; 33(6):503-6. PubMed ID: 19958197
    [Abstract] [Full Text] [Related]

  • 42. Hb A2-Pasteur-Tunis [delta59(E3)Lys-->Asn, AAG-->AAC]: a new delta chain variant detected by DNA sequencing in a Tunisian carrier of the codon 39 (C-->T) beta0-Thalassemia mutation.
    Moumni I, Zorai A, Daoued BB, Mosbahi I, Omar S, Kaabachi N, Dellagi K, Abbes S.
    Hemoglobin; 2007; 31(1):23-9. PubMed ID: 17365002
    [Abstract] [Full Text] [Related]

  • 43. Hb Alperton [beta135(H13)Ala-->Val] shows decreased oxygen affinity.
    Zurbriggen K, Schmid M, Schmugge M, Troxler H, Speer O.
    Hemoglobin; 2009; 33(6):498-502. PubMed ID: 19958196
    [Abstract] [Full Text] [Related]

  • 44. A novel beta-globin structural mutant, Hb Brescia (beta 114 Leu-Pro), causing a severe beta-thalassemia intermedia phenotype.
    Murru S, Poddie D, Sciarratta GV, Agosti S, Baffico M, Melevendi C, Pirastu M, Cao A.
    Hum Mutat; 1992; 1(2):124-8. PubMed ID: 1301199
    [Abstract] [Full Text] [Related]

  • 45. [Genetic screening for alpha-thalassemia deletional determinants by GapPCR method].
    Katol J, Takao M, Ideguchi H, Sawada H, Kawashima H, Ono J.
    Rinsho Byori; 2006 Nov; 54(11):1095-100. PubMed ID: 17240829
    [Abstract] [Full Text] [Related]

  • 46. Association of mild and severely unstable alpha chain variants: the first observation of a compound heterozygote with Hb Setif [alpha94(G1)Asp-->Tyr (alpha2)] and Hb Agrinio [alpha29(B10)Leu-->Pro (alpha2)] in a Greek family.
    Douna V, Papassotiriou I, Stamoulakatou A, Metaxotou-Mavrommati A, Kanavakis E, Traeger-Synodinos J.
    Hemoglobin; 2008 Nov; 32(6):592-5. PubMed ID: 19065338
    [Abstract] [Full Text] [Related]

  • 47. The prevalence and molecular basis of hemoglobinopathies in Cambodia.
    Carnley BP, Prior JF, Gilbert A, Lim E, Devenish R, Sing H, Sarin E, Guhadasan R, Sullivan SG, Wise CA, Bittles AH, Chan K, Wong MS, Chan V, Erber WN.
    Hemoglobin; 2006 Nov; 30(4):463-70. PubMed ID: 16987801
    [Abstract] [Full Text] [Related]

  • 48. 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]

  • 49. [Analysis of the non-deletion alpha-thalassemia mutations by PCR temperature gradient gel electrophoresis].
    Zhao Y, Xu X, Yang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2001 Feb; 18(1):51-5. PubMed ID: 11172644
    [Abstract] [Full Text] [Related]

  • 50. Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient.
    Giordano PC, Maatman RG, Niessen RW, van Delft P, Harteveld CL.
    Haematologica; 2006 Dec; 91(12 Suppl):ECR56. PubMed ID: 17194662
    [Abstract] [Full Text] [Related]

  • 51. The C-->G transition in the alpha 2-globin gene of a normal alpha alpha-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians.
    Masala B, Musino L, Pirastru M, Manca L.
    Eur J Haematol; 2004 Jun; 72(6):437-40. PubMed ID: 15128423
    [Abstract] [Full Text] [Related]

  • 52. Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: two new abnormalities of the α2-globin gene.
    Kaufmann JO, Phylipsen M, Neven C, Huisman W, van Delft P, Bakker-Verweij M, Arkesteijn SG, Harteveld CL, Giordano PC.
    Hemoglobin; 2010 Jun; 34(5):439-44. PubMed ID: 20854117
    [Abstract] [Full Text] [Related]

  • 53. Association of Hb Thailand [α56(E5)Lys→Thr] and Hb Phnom Penh [α117(GH5)-Ile-α118(H1)] with α(0)-thalassemia: molecular and hematological features and differential diagnosis.
    Singha K, Srivorakun H, Fucharoen G, Changtrakul Y, Komwilaisak P, Jetsrisuparb A, Puangplruk R, Fucharoen S.
    Hemoglobin; 2013 Jun; 37(1):37-47. PubMed ID: 23215800
    [Abstract] [Full Text] [Related]

  • 54. Molecular lesion frequency of hemoglobin gene disorders in Taiwan.
    Liu SC, Peng CT, Lin TH, Wang SJ, Shih MC, Tien N, Chang CC, Lu JJ, Lin CY.
    Hemoglobin; 2011 Jun; 35(3):228-36. PubMed ID: 21599435
    [Abstract] [Full Text] [Related]

  • 55. First description of a Hb A2 variant in Thailand. Identification of Hb A2-Melbourne [δ43(CD2)Glu→Lys] in Thai individuals.
    Chaibunruang A, Fucharoen G, Fucharoen S.
    Hemoglobin; 2012 Jun; 36(1):80-4. PubMed ID: 21967556
    [Abstract] [Full Text] [Related]

  • 56. Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques.
    Joly P, Pégourie B, Courby S, Barro C, Besson G, Cohen L, Garcia C, Francina A.
    Hemoglobin; 2008 Jun; 32(4):411-7. PubMed ID: 18654892
    [Abstract] [Full Text] [Related]

  • 57. New and known β-thalassemia determinants masked by known and new δ gene defects [Hb A(2)-Ramallah or δ6(A3)Glu→Gln, GAG>>CAG].
    Phylipsen M, Harteveld CL, de Metz M, Gallivan MV, Arkesteijn SG, Luo HY, Chui DH, Giordano PC.
    Hemoglobin; 2010 Jun; 34(5):445-50. PubMed ID: 20854118
    [Abstract] [Full Text] [Related]

  • 58. Hb Hekinan in a Taiwanese subject: a G-->T substitution at codon 27 of the alpha1-globin gene abolishes an HaeIII site.
    Shih HC, Shih MC, Chang YC, Peng CT, Chang TJ, Chang JG.
    Hemoglobin; 2007 Jun; 31(4):495-8. PubMed ID: 17994385
    [Abstract] [Full Text] [Related]

  • 59. A new stable alpha chain variant: Hb Basel [alpha14(A12)Trp-->Leu (alpha1)].
    Hergersberg M, Brunner-Agten S, Kühne T, Paulussen M, Huber AR.
    Hemoglobin; 2010 Jun; 34(3):327-31. PubMed ID: 20524822
    [Abstract] [Full Text] [Related]

  • 60. Hb Constant Spring [alpha 142, Term-->Gln (TAA>CAA in alpha2)] in the alpha-thalassemia of anemic patients in Myanmar.
    Ne-Win, Harano K, Harano T, Kyaw-Shwe, Aye-Aye-Myint, Khin-Thander-Aye, Okada S.
    Hemoglobin; 2008 Jun; 32(5):454-61. PubMed ID: 18932070
    [Abstract] [Full Text] [Related]

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