131 related articles for article (PubMed ID: 2822177)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
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 single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe.
Fucharoen S; Kobayashi Y; Fucharoen G; Ohba Y; Miyazono K; Fukumaki Y; Takaku F
Br J Haematol; 1990 Jul; 75(3):393-9. PubMed ID: 2167124
[TBL] [Abstract][Full Text] [Related]
8. Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes.
Orkin SH; Goff SC
J Biol Chem; 1981 Oct; 256(19):9782-4. PubMed ID: 6985481
[TBL] [Abstract][Full Text] [Related]
9. Two cloned beta thalassemia genes are associated with amber mutations at codon 39.
Pergolizzi R; Spritz RA; Spence S; Goossens M; Kan YW; Bank A
Nucleic Acids Res; 1981 Dec; 9(24):7065-72. PubMed ID: 6278453
[TBL] [Abstract][Full Text] [Related]
10. "Silent" nucleotide substitution in codon 24 of a beta+ thalassemia globin gene activates splice site in coding sequence RNA.
Humphries RK; Ley T; Goldsmith ME; Kantor JA; Cline AC; Nienhuis AW
Prog Clin Biol Res; 1983; 134():123-6. PubMed ID: 6664994
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. ATA box transcription mutation in beta-thalassemia.
Orkin SH; Sexton JP; Cheng TC; Goff SC; Giardina PJ; Lee JI; Kazazian HH
Nucleic Acids Res; 1983 Jul; 11(14):4727-34. PubMed ID: 6308558
[TBL] [Abstract][Full Text] [Related]
13. The beta-globin gene on the Chinese delta beta-thalassemia chromosome carries a promoter mutation.
Atweh GF; Zhu XX; Brickner HE; Dowling CH; Kazazian HH; Forget BG
Blood; 1987 Nov; 70(5):1470-4. PubMed ID: 2822174
[TBL] [Abstract][Full Text] [Related]
14. A novel ochre mutation in the beta-thalassemia gene of a Thai. Identification by direct cloning of the entire beta-globin gene amplified using polymerase chain reactions.
Fucharoen S; Fucharoen G; Fucharoen P; Fukumaki Y
J Biol Chem; 1989 May; 264(14):7780-3. PubMed ID: 2542242
[TBL] [Abstract][Full Text] [Related]
15. One base substitution in IVS-2 causes a beta +-thalassemia phenotype in a Chinese patient.
Takihara Y; Matsunaga E; Nakamura T; Lin S; Lee H; Fukumaki Y; Takagi Y
Biochem Biophys Res Commun; 1984 May; 121(1):324-30. PubMed ID: 6732811
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Five nucleotide changes in the large intervening sequence of a beta globin gene in a beta+ thalassemia patient.
Spence SE; Pergolizzi RG; Donovan-Peluso M; Kosche KA; Dobkin CS; Bank A
Nucleic Acids Res; 1982 Feb; 10(4):1283-94. PubMed ID: 6280138
[TBL] [Abstract][Full Text] [Related]
18. Hematological phenotype of the double heterozygous state for alpha and beta thalassemia.
Rosatelli C; Falchi AM; Scalas MT; Tuveri T; Furbetta M; Cao A
Hemoglobin; 1984; 8(1):25-35. PubMed ID: 6202659
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.
Kazazian HH; Orkin SH; Boehm CD; Sexton JP; Antonarakis SE
Am J Hum Genet; 1983 Sep; 35(5):1028-33. PubMed ID: 6310991
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]