166 related articles for article (PubMed ID: 18473249)
1. Frameshift mutation in the alpha2-globin gene causing alpha+ -thalassemia: codon 49 (-GC).
Eng B; Waye JS
Hemoglobin; 2008; 32(3):315-7. PubMed ID: 18473249
[TBL] [Abstract][Full Text] [Related]
2. Alpha+-thalassemia trait caused by a nonsense mutation in the alpha2-globin gene: codon 54 (CAG>TAG).
Eng B; Walker L; Waye JS
Hemoglobin; 2009; 33(1):72-4. PubMed ID: 19205977
[TBL] [Abstract][Full Text] [Related]
3. α(+)-Thalassemia trait caused by a frameshift mutation in exon 2 of the α2-globin gene [HBA2 c.244delT].
Waye JS; Walker L; Eng B
Hemoglobin; 2012; 36(2):205-7. PubMed ID: 22375514
[TBL] [Abstract][Full Text] [Related]
4. A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C).
Joly P; Lacan P; Garcia C; Barro C; Francina A
Hemoglobin; 2012; 36(5):508-10. PubMed ID: 22738776
[TBL] [Abstract][Full Text] [Related]
5. 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; 32(4):411-7. PubMed ID: 18654892
[TBL] [Abstract][Full Text] [Related]
6. α-thalassemia trait caused by frameshift mutations in exon 2 of the α2-globin gene: HBA2:c.131delT and HBA2:c.143delA.
Finlayson J; Ghassemifar R; Holmes P; Grey D; Newbound C; Pell N; Jennens M; Greenwood L; Beilby J
Hemoglobin; 2012; 36(5):511-5. PubMed ID: 22943743
[TBL] [Abstract][Full Text] [Related]
7. α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].
Waye JS; Eng B; Hanna M; Hohenadel BA; Nakamura LM; Walker L
Hemoglobin; 2015; 39(3):209-10. PubMed ID: 25897479
[TBL] [Abstract][Full Text] [Related]
8. 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; 41(1):56-9. PubMed ID: 18381244
[TBL] [Abstract][Full Text] [Related]
9. Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22.
Pereira FJ; do Céu Silva M; Picanço I; Seixas MT; Ferrão A; Faustino P; Romão L
Br J Haematol; 2006 Apr; 133(1):98-102. PubMed ID: 16512835
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu--Arg (alpha2).
Martin G; Villegas A; González FA; Ropero P; Hojas R; Polo M; Mateo M; Salvador M; Benavente C
Hemoglobin; 2005; 29(2):113-7. PubMed ID: 15921163
[TBL] [Abstract][Full Text] [Related]
11. A novel case of Hb Phnom Penh: codons 117/118 (+ATC) as a cause of α+ -thalassemia.
Zhai YS; Tang HS; Zhou JY; Li DZ
Hemoglobin; 2012; 36(3):289-92. PubMed ID: 22432594
[TBL] [Abstract][Full Text] [Related]
12. Three new alpha-thalassemia point mutations ascertained through newborn screening.
Eng B; Patterson M; Walker L; Hoppe C; Azimi M; Lee H; Giordano PC; Waye JS
Hemoglobin; 2006; 30(2):149-53. PubMed ID: 16798638
[TBL] [Abstract][Full Text] [Related]
13. Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects.
Harteveld CL; Yavarian M; Zorai A; Quakkelaar ED; van Delft P; Giordano PC
Am J Hematol; 2003 Oct; 74(2):99-103. PubMed ID: 14508795
[TBL] [Abstract][Full Text] [Related]
14. A novel α-thalassemia frameshift mutation: codon 8 (-C).
Tang HS; Zhou JY; Xie XM; Li R; Liao C; Li DZ
Hemoglobin; 2012; 36(2):192-5. PubMed ID: 22242813
[TBL] [Abstract][Full Text] [Related]
15. Molecular and cellular characterization of a new α-thalassemia mutation (HBA2:c.94A>C) generating an alternative splice site and a premature stop codon.
Qadah T; Finlayson J; Newbound C; Pell N; Pascoe M; Greenwood L; Holmes P; Grey D; Beilby J; Ghassemifar R
Hemoglobin; 2012; 36(3):244-52. PubMed ID: 22524210
[TBL] [Abstract][Full Text] [Related]
16. Two new hemoglobin variants: Hb Brem-sur-Mer [beta9(A6)Ser-->Tyr] and Hb Passy [alpha81(F2)Ser-->Pro (alpha2)].
Lacan P; Moreau M; Becchi M; Zanella-Cleon I; Aubry M; Louis JJ; Couprie N; Francina A
Hemoglobin; 2005; 29(1):69-75. PubMed ID: 15768558
[TBL] [Abstract][Full Text] [Related]
17. A novel frameshift mutation (+A) at codon 18 of the beta-globin gene associated with high persistence of fetal hemoglobin phenotype and deltabeta-thalassemia.
Feriotto G; Salvatori F; Finotti A; Breveglieri G; Venturi M; Zuccato C; Bianchi N; Borgatti M; Lampronti I; Mancini I; Massei F; Favre C; Gambari R
Acta Haematol; 2008; 119(1):28-37. PubMed ID: 18230963
[TBL] [Abstract][Full Text] [Related]
18. Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) causing nondeletional α-thalassemia in a Chinese family.
Liao C; Tang HS; Li R; Li DZ
Hemoglobin; 2013; 37(2):188-91. PubMed ID: 23470151
[TBL] [Abstract][Full Text] [Related]
19. Hb Bleuland [alpha108(G15)Thr-->Asn, ACC-->AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype.
Harteveld CL; Versteegh FG; Kok PJ; van Rooijen-Nijdam IH; van Delft P; Giordano PC
Hemoglobin; 2006; 30(3):349-54. PubMed ID: 16840225
[TBL] [Abstract][Full Text] [Related]
20. Ggamma -37 (A-->T): a new nondeletional hereditary persistence of fetal hemoglobin determinant associated with the rare codon 91 (+T) delta0-thalassemia.
Bouva MJ; Harteveld CL; Bakker-Verweij G; van Delft P; Giordano PC
Hemoglobin; 2006; 30(3):371-7. PubMed ID: 16840228
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]