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PUBMED FOR HANDHELDS

Journal Abstract Search


164 related items for PubMed ID: 29313434

  • 1. A Novel β-Thalassemia Insertion/Frameshift Mutation Between Codons 77/78 (p.Leu78Profs*13 or HBB: c.235_236insC) Observed in a Family in Bangladesh.
    Aziz A, Das SA, Khan WA, Sadiya S, Banu B, Sarwardi G, Luna RZ.
    Hemoglobin; 2017; 41(4-6):311-313. PubMed ID: 29313434
    [Abstract] [Full Text] [Related]

  • 2. A Novel Pathogenic β-Thalassemia Mutation Identified at Codon 8 (HBB: c.27delG) in a Bangladeshi Family Acquired De Novo.
    Hasan KN, Sufian A, Mazumder AK, Khaleque MA, Rahman M, Akhteruzzaman S.
    Hemoglobin; 2019 May; 43(3):162-165. PubMed ID: 31339392
    [Abstract] [Full Text] [Related]

  • 3. A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia.
    Jiang F, Huang LY, Chen GL, Zhou JY, Xie XM, Li DZ.
    Hemoglobin; 2017 Jan; 41(1):59-60. PubMed ID: 28460555
    [Abstract] [Full Text] [Related]

  • 4. Coinheritance of α- and β-Thalassemia with a Novel Mutation (HBB: c.268_281delAGTGAGCTGCACTG) in a Chinese Family.
    Cheng C, Peng Q, Li S, Yang L, Li W, Rao C, Lu X.
    Hemoglobin; 2017 Jan; 41(4-6):288-290. PubMed ID: 29251005
    [Abstract] [Full Text] [Related]

  • 5. Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.
    Aziz MA, Khan WA, Banu B, Das SA, Sadiya S, Begum S.
    Hemoglobin; 2020 Nov; 44(6):397-401. PubMed ID: 33092414
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  • 6. Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family.
    He S, Lin L, Wei Y, Chen B, Yi S, Chen Q, Qiu X, Wei H, Li G, Zheng C.
    Hemoglobin; 2016 Aug; 40(4):277-9. PubMed ID: 27492766
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  • 7. The Effect of Nonsense Mediated Decay on Transcriptional Activity Within the Novel β-Thalassemia Mutation HBB: c.129delT.
    Forster L, Ardakani RM, Qadah T, Finlayson J, Ghassemifar R.
    Hemoglobin; 2015 Aug; 39(5):334-9. PubMed ID: 26207313
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  • 9. Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β0 thalassemia.
    Ekwattanakit S, Riolueang S, Viprakasit V.
    Hematology; 2018 Mar; 23(2):117-121. PubMed ID: 28768465
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  • 11. A frameshift at codons 77/78 (-C): a novel beta-thalassemia mutation.
    Perea FJ, Magaña MT, Esparza MA, Ibarra B.
    Hemoglobin; 2004 Aug; 28(3):261-5. PubMed ID: 15481896
    [Abstract] [Full Text] [Related]

  • 12. A Novel Frameshift Mutation at Codon 2 (-T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan.
    Bayramov B, Aliyeva G, Asadov C, Mammadova T, Karimova N, Eynullazadeh K, Gafarova S, Akbarov S, Farhadova S, Safarzadeh Z, Abbasov M.
    Hemoglobin; 2019 Aug; 43(4-5):280-282. PubMed ID: 31476942
    [Abstract] [Full Text] [Related]

  • 13. β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20.
    Kluge ML, Hoyer JD, Swanson KC, Oliveira JL.
    Hemoglobin; 2014 Aug; 38(4):292-4. PubMed ID: 24986053
    [Abstract] [Full Text] [Related]

  • 14. Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family.
    Qiu Y, Huang Y, Chen P, Wei S, Su Q, Zhang Z, Yang Z, Ye L, Huang J, Shen X, Mo W.
    Hemoglobin; 2020 Nov; 44(6):402-405. PubMed ID: 33198537
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  • 16. Hb A2 Hong Kong - A novel δ-globin variant in a Chinese family masks the diagnosis of β-thalassemia trait.
    So CC, Chan AY, Luo HY, Verhovsek M, Chui DH, Ling SC, Chan LC.
    Hemoglobin; 2011 Nov; 35(2):162-5. PubMed ID: 21417575
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  • 17. A new insertion mutation in the beta-globin gene [codons 45/46 (+A)] resulting in a beta-thalassemia minor phenotype.
    Cornut G, Weng X, Robin L, Lavoie C, Marchand S, Soulières D.
    Hemoglobin; 2007 Nov; 31(3):393-5. PubMed ID: 17654079
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  • 18. Population-Based Genetic Study of β-Thalassemia Mutations in Mardan Division, Khyber Pakhtunkhwa Province, Pakistan.
    Muhammad R, Shakeel M, Rehman SU, Lodhi MA.
    Hemoglobin; 2017 Mar; 41(2):104-109. PubMed ID: 28635337
    [Abstract] [Full Text] [Related]

  • 19. Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
    Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM.
    Hemoglobin; 2016 Mar; 40(2):75-84. PubMed ID: 26635043
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  • 20. 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 Mar; 36(5):480-4. PubMed ID: 22992010
    [Abstract] [Full Text] [Related]


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