151 related articles for article (PubMed ID: 8111050)
1. A novel beta-globin mutation, beta Durham-NC [beta 114 Leu-->Pro], produces a dominant thalassemia-like phenotype.
de Castro CM; Devlin B; Fleenor DE; Lee ME; Kaufman RE
Blood; 1994 Feb; 83(4):1109-16. PubMed ID: 8111050
[TBL] [Abstract][Full Text] [Related]
2. A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype.
Kobayashi Y; Fukumaki Y; Komatsu N; Ohba Y; Miyaji T; Miura Y
Blood; 1987 Nov; 70(5):1688-91. PubMed ID: 2822177
[TBL] [Abstract][Full Text] [Related]
3. 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
[TBL] [Abstract][Full Text] [Related]
4. 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
[TBL] [Abstract][Full Text] [Related]
5. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.
Kazazian HH; Dowling CE; Hurwitz RL; Coleman M; Stopeck A; Adams JG
Blood; 1992 Jun; 79(11):3014-8. PubMed ID: 1586746
[TBL] [Abstract][Full Text] [Related]
6. The rare Hb Showa-Yakushiji [beta110(G12)Leu-->Pro, CTG-->CCG] in combination with an alpha gene triplication found in a Dutch patient during her first pregnancy examination.
Giordano PC; Addo-Daaku A; Sander MJ; van Rooijen-Nijdam I; van Delft P; Harteveld CL; Kok PJ
Hemoglobin; 2007; 31(2):167-71. PubMed ID: 17486498
[TBL] [Abstract][Full Text] [Related]
7. A substitution of cytosine for thymine in codon 110 of the human beta-globin gene is a novel cause of beta-thalassemia phenotypes.
Naritomi Y; Naito Y; Nakashima H; Yokota E; Imamura T
Hum Genet; 1988 Sep; 80(1):11-5. PubMed ID: 3417300
[TBL] [Abstract][Full Text] [Related]
8. Hemoglobin Cagliari (beta 60 [E4] Val----Glu): a novel unstable thalassemic hemoglobinopathy.
Podda A; Galanello R; Maccioni L; Melis MA; Rosatelli C; Perseu L; Cao A
Blood; 1991 Jan; 77(2):371-5. PubMed ID: 1985702
[TBL] [Abstract][Full Text] [Related]
9. 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
[TBL] [Abstract][Full Text] [Related]
10. Dominantly Inherited beta-Thalassemia.
Efremov GD
Hemoglobin; 2007; 31(2):193-207. PubMed ID: 17486503
[TBL] [Abstract][Full Text] [Related]
11. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis.
Trifillis P; Ioannou P; Schwartz E; Surrey S
Blood; 1991 Dec; 78(12):3298-305. PubMed ID: 1742490
[TBL] [Abstract][Full Text] [Related]
12. alpha-Thalassemia caused by an unstable alpha-globin mutant.
Liebhaber SA; Kan YW
J Clin Invest; 1983 Mar; 71(3):461-6. PubMed ID: 6826718
[TBL] [Abstract][Full Text] [Related]
13. Molecular analysis of atypical beta-thalassemia heterozygotes.
Pirastu M; Ristaldi MS; Loudianos G; Murru S; Sciarratta GV; Parodi MI; Leone D; Agosti S; Cao A
Ann N Y Acad Sci; 1990; 612():90-7. PubMed ID: 2291578
[TBL] [Abstract][Full Text] [Related]
14. Thalassemic hemoglobinopathies.
Steinberg MH; Adams JG
Am J Pathol; 1983 Dec; 113(3):396-409. PubMed ID: 6359893
[TBL] [Abstract][Full Text] [Related]
15. Interaction of an alpha(+)-thalassemia deletion with either a highly unstable alpha-globin variant (alpha2, codon 59, GGC-->GAC) or a nondeletional alpha-thalassemia mutation (AATAAA-->AATAAG): comparison of phenotypes illustrating "dominant" alpha-thalassemia.
Traeger-Synodinos J; Metaxotou-Mavrommati A; Karagiorga M; Vrettou C; Papassotiriou I; Stamoulakatou A; Kanavakis E
Hemoglobin; 1999 Nov; 23(4):325-37. PubMed ID: 10569721
[TBL] [Abstract][Full Text] [Related]
16. Two novel beta-thalassemia mutations in the 5' and 3' noncoding regions of the beta-globin gene.
Cai SP; Eng B; Francombe WH; Olivieri NF; Kendall AG; Waye JS; Chui DH
Blood; 1992 Mar; 79(5):1342-6. PubMed ID: 1536956
[TBL] [Abstract][Full Text] [Related]
17. An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.
Moi P; Cash FE; Liebhaber SA; Cao A; Pirastu M
J Clin Invest; 1987 Nov; 80(5):1416-21. PubMed ID: 3680504
[TBL] [Abstract][Full Text] [Related]
18. Molecular mechanisms of thalassemia in southeast Asia.
Winichagoon P; Fucharoen S; Wilairat P; Fukumaki Y
Southeast Asian J Trop Med Public Health; 1995; 26 Suppl 1():235-40. PubMed ID: 8629113
[TBL] [Abstract][Full Text] [Related]
19. A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.
Ropero P; Villegas A; Martínez M; Ataulfo González Fernández F; Benavente C; Mateo M
Ann Hematol; 2005 Sep; 84(9):584-7. PubMed ID: 15977037
[TBL] [Abstract][Full Text] [Related]
20. The beta-globin gene in Sardinian delta beta 0-thalassemia carries a C----T nonsense mutation at codon 39.
Guida S; Giglioni B; Comi P; Ottolenghi S; Camaschella C; Saglio G
EMBO J; 1984 Apr; 3(4):785-7. PubMed ID: 6327288
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]