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2. A case of beta-thalassemia with a C----T substitution at position 654 of the second intervening sequence of the beta-globin gene. Jo T; Momita S; Sadamori N; Tomonaga M; Fucharoem S; Fukumaki Y; Ichimaru M Intern Med; 1992 Feb; 31(2):269-72. PubMed ID: 1600278 [TBL] [Abstract][Full Text] [Related]
3. Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Spritz RA; Jagadeeswaran P; Choudary PV; Biro PA; Elder JT; deRiel JK; Manley JL; Gefter ML; Forget BG; Weissman SM Proc Natl Acad Sci U S A; 1981 Apr; 78(4):2455-9. PubMed ID: 6264477 [TBL] [Abstract][Full Text] [Related]
4. Mutation analysis of beta-thalassemia genes in a German family reveals a rare transversion in the first intron. Eigel A; Schnee J; Oehme R; Horst J Hum Genet; 1989 Mar; 81(4):371-2. PubMed ID: 2703241 [TBL] [Abstract][Full Text] [Related]
5. Severe Hb S-beta zero-thalassaemia with a T----C substitution in the donor splice site of the first intron of the beta-globin gene. Gonzalez-Redondo JM; Stoming TA; Kutlar F; Kutlar A; McKie VC; McKie KM; Huisman TH Br J Haematol; 1989 Jan; 71(1):113-7. PubMed ID: 2917118 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. Quantification analysis of human delta-globin gene. Mutation in 5'-splice junction sequence and delta-thalassemia. Iida Y Nucleic Acids Symp Ser; 1991; (25):157-8. PubMed ID: 1842064 [TBL] [Abstract][Full Text] [Related]
8. Quantification analysis of splice signal sequences. Exon skipping in beta-globin gene of thalassemia. Iida Y Nucleic Acids Symp Ser; 1993; (29):161-2. PubMed ID: 8247751 [TBL] [Abstract][Full Text] [Related]
9. A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia. Baird M; Driscoll C; Schreiner H; Sciarratta GV; Sansone G; Niazi G; Ramirez F; Bank A Proc Natl Acad Sci U S A; 1981 Jul; 78(7):4218-21. PubMed ID: 6270663 [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. Beta-thalassemia resulting from a single nucleotide substitution in an acceptor splice site. Atweh GF; Anagnou NP; Shearin J; Forget BG; Kaufman RE Nucleic Acids Res; 1985 Feb; 13(3):777-90. PubMed ID: 2987809 [TBL] [Abstract][Full Text] [Related]
12. Nucleotide sequence analysis of human beta-globin gene by the quantification method: mutations in 3'-splice junction sequence and beta-thalassemia. Iida Y J Biochem; 1990 Dec; 108(6):934-7. PubMed ID: 2089040 [TBL] [Abstract][Full Text] [Related]
13. Quantification analysis of human alpha-globin gene. Mutation in 5'-splice junction sequence and alpha-thalassemia. Iida Y Nucleic Acids Symp Ser; 1990; (22):37-8. PubMed ID: 2101909 [TBL] [Abstract][Full Text] [Related]
14. Inactivation of an acceptor RNA splice site by a short deletion in beta-thalassemia. Orkin SH; Sexton JP; Goff SC; Kazazian HH J Biol Chem; 1983 Jun; 258(12):7249-51. PubMed ID: 6190800 [TBL] [Abstract][Full Text] [Related]
15. "Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA. Goldsmith ME; Humphries RK; Ley T; Cline A; Kantor JA; Nienhuis AW Proc Natl Acad Sci U S A; 1983 Apr; 80(8):2318-22. PubMed ID: 6572978 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Testing of G----A mutation in position 110 of a minor intron of beta-globin genes in patients with thalassemia in Azerbaijan]. Fedorov AN; Rasulov EM; Oretskaia TS; Lebedeva IV; Ivanovskaia MG; Shabarova ZA; Limborskaia SA Mol Gen Mikrobiol Virusol; 1990 Jan; (1):18-22. PubMed ID: 2139713 [TBL] [Abstract][Full Text] [Related]
18. Structural analysis of a beta-thalassemia gene found in Taiwan. Kimura A; Matsunaga E; Takihara Y; Nakamura T; Takagi Y; Lin S; Lee H J Biol Chem; 1983 Mar; 258(5):2748-9. PubMed ID: 6826539 [TBL] [Abstract][Full Text] [Related]