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Journal Abstract Search

324 related items for PubMed ID: 1301199

  • 1. 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
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  • 2. Distinct phenotypic expression associated with a new hyperunstable alpha globin variant (Hb heraklion, alpha1cd37(C2)Pro>0): comparison to other alpha-thalassemic hemoglobinopathies.
    Traeger-Synodinos J, Papassotiriou I, Metaxotou-Mavrommati A, Vrettou C, Stamoulakatou A, Kanavakis E.
    Blood Cells Mol Dis; 2000 Aug; 26(4):276-84. PubMed ID: 11042028
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  • 3. 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
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  • 4. Dominantly Inherited beta-Thalassemia.
    Efremov GD.
    Hemoglobin; 2007 Feb; 31(2):193-207. PubMed ID: 17486503
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  • 10. Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia.
    Amato A, Cappabianca MP, Perri M, Zaghis I, Mastropietro F, Ponzini D, Di Biagio P, Piscitelli R.
    Hemoglobin; 2012 Feb; 36(5):480-4. PubMed ID: 22992010
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  • 14. [Molecular diagnosis of beta-thalassemia intermedia].
    Chen J, Liu W, Chen M.
    Zhonghua Yi Xue Za Zhi; 1997 Aug; 77(8):575-8. PubMed ID: 9772460
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  • 16. C to T transition at the first nucleotide of codon 63 of the beta-globin gene corresponding to hemoglobin M-Saskatoon in an Indonesian boy.
    Suryantoro P, Takeshima Y, Haryanto A, Matsuo M.
    Jpn J Hum Genet; 1995 Jun; 40(2):195-201. PubMed ID: 7663000
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  • 18. Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients.
    Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC.
    Blood Cells Mol Dis; 2008 Jun; 40(3):312-6. PubMed ID: 18249014
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  • 19. 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 Jun; 32(6):592-5. PubMed ID: 19065338
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  • 20. Spontaneous mutation of the hemoglobin Leiden (beta 6 or 7 Glu-->0) in a Thai girl.
    Sanguansermsri P, Shimbhu D, Wongvilairat R, Pimsorn C, Sanguansermsri T.
    Haematologica; 2003 Dec; 88(12):ECR35. PubMed ID: 14688008
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