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4. 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; 36(5):480-4. PubMed ID: 22992010 [TBL] [Abstract][Full Text] [Related]
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6. 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; 40(2):75-84. PubMed ID: 26635043 [TBL] [Abstract][Full Text] [Related]
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9. Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang ( Lin XM; Jiang F; Li J; Li DZ Hemoglobin; 2022 Jul; 46(4):253-255. PubMed ID: 35686459 [TBL] [Abstract][Full Text] [Related]
11. A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant. Cappabianca MP; Colosimo A; Sabatucci A; Dainese E; Di Biagio P; Piscitelli R; Sarra O; Zei D; Amato A Hemoglobin; 2017 Jan; 41(1):53-55. PubMed ID: 28391745 [TBL] [Abstract][Full Text] [Related]
12. Elevated Hb A₂ Levels in a Patient with a Compound Heterozygosity for the (β⁺) -31 (A > G) and (β⁰) Codon 17 (A > T) Mutations Together with a Single α-Globin Gene. Panyasai S; Jaiping K; Pornprasert S Hemoglobin; 2015; 39(4):292-5. PubMed ID: 26029792 [TBL] [Abstract][Full Text] [Related]
18. Co-heredity of silent CAP + 1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia. Vinciguerra M; Passarello C; Cassarà F; Leto F; Cannata M; Calvaruso G; Di Maggio R; Renda D; Maggio A; Giambona A Int J Lab Hematol; 2016 Feb; 38(1):17-26. PubMed ID: 26418075 [TBL] [Abstract][Full Text] [Related]
19. Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan. Shamoon RP; Al-Allawi NA; Cappellini MD; Di Pierro E; Brancaleoni V; Granata F Hemoglobin; 2015; 39(3):178-83. PubMed ID: 25902180 [TBL] [Abstract][Full Text] [Related]
20. A novel promoter mutation (HBB: c.-75G>T) was identified as a cause of β(+)-thalassemia. Li Z; Li L; Yao Y; Li N; Li Y; Zhang Z; Yan F; Qiu H; Wu C; Zhang Z Hemoglobin; 2015; 39(2):115-20. PubMed ID: 25657036 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]