메뉴 건너뛰기




Volumn 38, Issue 2, 2000, Pages 123-132

Genetic modifying factors in β-thalassemia

Author keywords

Carrier state; Genetic screening; Genotype; HPFH; Molecular genetics; Phenotype; Thalassemia

Indexed keywords

BETA THALASSEMIA; CONFERENCE PAPER; DNA MODIFICATION; GENOTYPE; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL;

EID: 0034099822     PISSN: 14346621     EISSN: None     Source Type: Journal    
DOI: 10.1515/CCLM.2000.019     Document Type: Conference Paper
Times cited : (15)

References (78)
  • 3
    • 30944436542 scopus 로고
    • Genotype-phenotype correlations in beta-thalassemias
    • Cao A, Galanello R, Rosatelli MC. Genotype-phenotype correlations in beta-thalassemias. Blood Rev 1994; 8:1-12.
    • (1994) Blood Rev , vol.8 , pp. 1-12
    • Cao, A.1    Galanello, R.2    Rosatelli, M.C.3
  • 4
    • 0027229345 scopus 로고
    • Beta-thalassaemia baillieres
    • Thein SL. Beta-thalassaemia baillieres. Clin Haematol 1993; 6:151-75.
    • (1993) Clin Haematol , vol.6 , pp. 151-175
    • Thein, S.L.1
  • 5
    • 0032020108 scopus 로고    scopus 로고
    • The β-and δ-thalassemia repository
    • Baysal E, Huisman T. The β-and δ-thalassemia repository. Hemoglobin 1998; 22:169-95.
    • (1998) Hemoglobin , vol.22 , pp. 169-195
    • Baysal, E.1    Huisman, T.2
  • 6
    • 0023663887 scopus 로고
    • Position-independent, high-level expression of the human beta-globin gene in transgenic mice
    • Grosveld F, van AG, Greaves DR, Kollias G. Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell 1987; 51:975-85.
    • (1987) Cell , vol.51 , pp. 975-985
    • Grosveld, F.1    Van, A.G.2    Greaves, D.R.3    Kollias, G.4
  • 7
    • 0026542376 scopus 로고
    • Mean corpuscular volume of heterozygotes for beta-thalassemia correlates with the severity of mutations
    • Rund D, Filon D, Strauss N, Rachmilewitz EA, Oppenheim A. Mean corpuscular volume of heterozygotes for beta-thalassemia correlates with the severity of mutations Blood 1992; 79:238-43.
    • (1992) Blood , vol.79 , pp. 238-243
    • Rund, D.1    Filon, D.2    Strauss, N.3    Rachmilewitz, E.A.4    Oppenheim, A.5
  • 8
    • 0026564823 scopus 로고
    • Heterozygous beta-thalassemia: Relationship between the hematological phenotype and the type of beta-thalassemia mutation
    • Rosatelli C, Leoni GB, Tuveri T, Scalas MT, Mosca A, Galanello R, et al. Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation. Am J Hematol 1992; 39:1-4.
    • (1992) Am J Hematol , vol.39 , pp. 1-4
    • Rosatelli, C.1    Leoni, G.B.2    Tuveri, T.3    Scalas, M.T.4    Mosca, A.5    Galanello, R.6
  • 9
    • 0020580228 scopus 로고
    • Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction
    • Melis MA, Pirastu M, Galanello R, Furbetta M, Tuveri T, Cao A. Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction. Blood 1983; 62:226-9.
    • (1983) Blood , vol.62 , pp. 226-229
    • Melis, M.A.1    Pirastu, M.2    Galanello, R.3    Furbetta, M.4    Tuveri, T.5    Cao, A.6
  • 10
    • 0021254793 scopus 로고
    • Hematological phenotype of the double heterozygous state for alpha and beta thalassemia
    • Rosatelli C, Falchi AM, Scalas MT, Tuveri T, Furbetta M, Cao A. Hematological phenotype of the double heterozygous state for alpha and beta thalassemia. Hemoglobin 1984; 8:25-35.
    • (1984) Hemoglobin , vol.8 , pp. 25-35
    • Rosatelli, C.1    Falchi, A.M.2    Scalas, M.T.3    Tuveri, T.4    Furbetta, M.5    Cao, A.6
  • 11
    • 0021067375 scopus 로고
    • A family with segregating triplicated alpha globin loci and beta thalassemia
    • Galanello R, Ruggeri R, Paglietti E, Addis M, Melis MA, Cao A. A family with segregating triplicated alpha globin loci and beta thalassemia. Blood 1983; 62:1035-40.
    • (1983) Blood , vol.62 , pp. 1035-1040
    • Galanello, R.1    Ruggeri, R.2    Paglietti, E.3    Addis, M.4    Melis, M.A.5    Cao, A.6
  • 13
    • 0028279382 scopus 로고
    • Genotype of subjects with borderline hemoglobin A2 levels: Implication for beta-thalassemia carrier screening
    • Galanello R, Barella S, Ideo A, Gasperini D, Rosatelli C, Paderi L, et al. Genotype of subjects with borderline hemoglobin A2 levels: implication for beta-thalassemia carrier screening. Am J Hematol 1994; 46:79-81.
    • (1994) Am J Hematol , vol.46 , pp. 79-81
    • Galanello, R.1    Barella, S.2    Ideo, A.3    Gasperini, D.4    Rosatelli, C.5    Paderi, L.6
  • 14
    • 0024061172 scopus 로고
    • Delineation of the molecular basis of delta- and normal HbA2 beta- thalassemia
    • Moi P, Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, et al. Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia. Blood 1988; 72:530-3.
    • (1988) Blood , vol.72 , pp. 530-533
    • Moi, P.1    Paglietti, E.2    Sanna, A.3    Brancati, C.4    Tagarelli, A.5    Galanello, R.6
  • 15
    • 0025020517 scopus 로고
    • Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level
    • Loudianos G, Cao A, Ristaldi MS, Pirastu M, Tzeti M, Kannavakis E, et al. Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level [letter]. Blood 1990; 75:526-8.
    • (1990) Blood , vol.75 , pp. 526-528
    • Loudianos, G.1    Cao, A.2    Ristaldi, M.S.3    Pirastu, M.4    Tzeti, M.5    Kannavakis, E.6
  • 16
    • 0026315968 scopus 로고
    • 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. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood 1991; 78:3298-305.
    • (1991) Blood , vol.78 , pp. 3298-3305
    • Trifillis, P.1    Ioannou, P.2    Schwartz, E.3    Surrey, S.4
  • 17
    • 0026558458 scopus 로고
    • Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3′ to the delta-globin gene
    • Moi P, Loudianos G, Lavinha J, Murru S, Cossu P, Casu R, et al. Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3′ to the delta-globin gene. Blood 1992; 79:512-6.
    • (1992) Blood , vol.79 , pp. 512-516
    • Moi, P.1    Loudianos, G.2    Lavinha, J.3    Murru, S.4    Cossu, P.5    Casu, R.6
  • 18
    • 0025923084 scopus 로고
    • A novel delta 0 mutation in cis with Hb Knossos: A study of different genetic interactions in three Egyptian families
    • Olds RJ, Sura T, Jackson B, Wonke B, Hoffbrand AV, Thein SL. A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families. Br J Haematol 1991; 78:430-6.
    • (1991) Br J Haematol , vol.78 , pp. 430-436
    • Olds, R.J.1    Sura, T.2    Jackson, B.3    Wonke, B.4    Hoffbrand, A.V.5    Thein, S.L.6
  • 20
    • 0027095613 scopus 로고
    • Molecular characterization of a novel 10.3 kb deletion causing beta- thalassaemia with unusually high Hb A2
    • Craig JE, Kelly SJ, Barnetson R, Thein SL. Molecular characterization of a novel 10.3 kb deletion causing beta- thalassaemia with unusually high Hb A2. Br J Haematol 1992; 82:735-44.
    • (1992) Br J Haematol , vol.82 , pp. 735-744
    • Craig, J.E.1    Kelly, S.J.2    Barnetson, R.3    Thein, S.L.4
  • 22
    • 0024477306 scopus 로고
    • A C - T substitution at nt - 101 in a conserved DNA sequence of the promoter region of the beta-globin gene is associated with "silent" beta-thalassemia
    • Gonzales-Redondo JM, Stoming TA, Kutlar A, Kutlar F, Lanclos KD, Howard EF, et al. A C - T substitution at nt - 101 in a conserved DNA sequence of the promoter region of the beta-globin gene is associated with "silent" beta-thalassemia. Blood 1989; 73:1705-11.
    • (1989) Blood , vol.73 , pp. 1705-1711
    • Gonzales-Redondo, J.M.1    Stoming, T.A.2    Kutlar, A.3    Kutlar, F.4    Lanclos, K.D.5    Howard, E.F.6
  • 23
    • 0025194949 scopus 로고
    • The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population
    • Ristaldi MS, Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D, et al. The C-T substitution in the distal CACCC box of the beta-globin gene promoter is a common cause of silent beta thalassaemia in the Italian population. Br J Haematol 1990; 74:480-6.
    • (1990) Br J Haematol , vol.74 , pp. 480-486
    • Ristaldi, M.S.1    Murru, S.2    Loudianos, G.3    Casula, L.4    Porcu, S.5    Pigheddu, D.6
  • 25
    • 0028171904 scopus 로고
    • Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype
    • Rosatelli MC, Pischedda A, Meloni A, Saba L, Pomo A, Travi M, et al. Homozygous beta-thalassaemia resulting in the beta-thalassaemia carrier state phenotype. Br J Haematol 1994; 88:562-5.
    • (1994) Br J Haematol , vol.88 , pp. 562-565
    • Rosatelli, M.C.1    Pischedda, A.2    Meloni, A.3    Saba, L.4    Pomo, A.5    Travi, M.6
  • 26
    • 0023601968 scopus 로고
    • Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA
    • Wong C, Dowling CE, Saiki RK, Higuchi RG, Erlich HA, Kazazian HH, Jr. Characterization of beta-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA. Nature 1987; 330:384-6.
    • (1987) Nature , vol.330 , pp. 384-386
    • Wong, C.1    Dowling, C.E.2    Saiki, R.K.3    Higuchi, R.G.4    Erlich, H.A.5    Kazazian H.H., Jr.6
  • 27
    • 0024595856 scopus 로고
    • High frequencies of a rearrangement (+ATA;-T) at-530 to the beta-globin gene in different populations indicate the absence of a correlation with a silent beta-thalassemia determinant
    • Wong SC, Stoming TA, Efremov GD, Huisman TH. High frequencies of a rearrangement (+ATA;-T) at-530 to the beta-globin gene in different populations indicate the absence of a correlation with a silent beta-thalassemia determinant. Hemoglobin 1989; 13:1-5
    • (1989) Hemoglobin , vol.13 , pp. 1-5
    • Wong, S.C.1    Stoming, T.A.2    Efremov, G.D.3    Huisman, T.H.4
  • 28
    • 0025918036 scopus 로고
    • A C - G mutation at nt position 6 3′ to the terminating codon may be the cause of a silent beta-thalassemia
    • Jankovic L, Dimovski AJ, Kollia P, Karageorga M, Loukopoulos D, Huisman TH. A C - G mutation at nt position 6 3′ to the terminating codon may be the cause of a silent beta-thalassemia. Int J Hematol 1991; 54:289-93.
    • (1991) Int J Hematol , vol.54 , pp. 289-293
    • Jankovic, L.1    Dimovski, A.J.2    Kollia, P.3    Karageorga, M.4    Loukopoulos, D.5    Huisman, T.H.6
  • 30
    • 0030023834 scopus 로고    scopus 로고
    • Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: A study of its interaction with other genotypes in two families
    • Ho PJ, Rochette J, Fisher CA, Wonke B, Jarvis MK, Yardumian A, et al. Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families. Blood 1996; 87:1170-8.
    • (1996) Blood , vol.87 , pp. 1170-1178
    • Ho, P.J.1    Rochette, J.2    Fisher, C.A.3    Wonke, B.4    Jarvis, M.K.5    Yardumian, A.6
  • 32
    • 0022021842 scopus 로고
    • Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene
    • Orkin SH, Cheng TC, Antonarakis SE, Kazazian HH, Jr. Thalassemia due to a mutation in the cleavage-polyadenylation signal of the human beta-globin gene. Embo J 1985; 4:453-6.
    • (1985) Embo J , vol.4 , pp. 453-456
    • Orkin, S.H.1    Cheng, T.C.2    Antonarakis, S.E.3    Kazazian H.H., Jr.4
  • 33
    • 0023140020 scopus 로고
    • Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia
    • Miller BA, Olivieri N, Salameh M, Ahmed M, Antognetti G, Huisman TH, et al. Molecular analysis of the high-hemoglobin-F phenotype in Saudi Arabian sickle cell anemia. N Engl J Med 1987; 316:244-50.
    • (1987) N Engl J Med , vol.316 , pp. 244-250
    • Miller, B.A.1    Olivieri, N.2    Salameh, M.3    Ahmed, M.4    Antognetti, G.5    Huisman, T.H.6
  • 34
    • 0028247096 scopus 로고
    • Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia
    • Oron V, Filon D, Oppenheim A, Rund D. Severe thalassaemia intermedia caused by interaction of homozygosity for alpha-globin gene triplication with heterozygosity for beta zero-thalassaemia. Br J Haematol 1994; 86:377-9.
    • (1994) Br J Haematol , vol.86 , pp. 377-379
    • Oron, V.1    Filon, D.2    Oppenheim, A.3    Rund, D.4
  • 35
    • 85047693866 scopus 로고
    • A benign form of thalassaemia intermedia may be determined by the interaction of triplicated alpha locus and heterozygous beta-thalassaemia
    • Camaschella C, Bertero MT, Serra A, Dall'Acqua M, Gasparini P, Trento M, et al. A benign form of thalassaemia intermedia may be determined by the interaction of triplicated alpha locus and heterozygous beta-thalassaemia. Br J Haematol 1987; 66:103-7.
    • (1987) Br J Haematol , vol.66 , pp. 103-107
    • Camaschella, C.1    Bertero, M.T.2    Serra, A.3    Dall'Acqua, M.4    Gasparini, P.5    Trento, M.6
  • 36
    • 85047689933 scopus 로고
    • Thalassaemia intermedia: Interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia
    • Kulozik AE, Thein SL, Wainscoat JS, Gale R, Kay LA, Wood JK, et al. Thalassaemia intermedia: interaction of the triple alpha-globin gene arrangement and heterozygous beta-thalassaemia. Br J Haematol 1987; 66:109-12.
    • (1987) Br J Haematol , vol.66 , pp. 109-112
    • Kulozik, A.E.1    Thein, S.L.2    Wainscoat, J.S.3    Gale, R.4    Kay, L.A.5    Wood, J.K.6
  • 37
    • 0029964907 scopus 로고    scopus 로고
    • The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: Clinical, haematological, biosynthetic and molecular studies
    • Traeger-Synodinos J, Kanavakis E, Vrettou C, Maragoudaki E, Michael T, Metaxotou-Mavromati A, et al. The triplicated alpha-globin gene locus in beta-thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies [see comments]. Br J Haematol 1996; 95:467-71.
    • (1996) Br J Haematol , vol.95 , pp. 467-471
    • Traeger-Synodinos, J.1    Kanavakis, E.2    Vrettou, C.3    Maragoudaki, E.4    Michael, T.5    Metaxotou-Mavromati, A.6
  • 38
    • 0023832588 scopus 로고
    • Pitfalls in genetic counselling for beta-thalassemia: An individual with 4 different thalassemia mutations
    • Galanello R, Paglietti ME, Addis M, Melis MA, Tuveri T, Furbetta M, et al. Pitfalls in genetic counselling for beta-thalassemia: an individual with 4 different thalassemia mutations. Clin Genet 1988; 33:151-5.
    • (1988) Clin Genet , vol.33 , pp. 151-155
    • Galanello, R.1    Paglietti, M.E.2    Addis, M.3    Melis, M.A.4    Tuveri, T.5    Furbetta, M.6
  • 39
    • 0023391977 scopus 로고
    • An approximately 300 bp deletion involving part of the 5′ beta-globin gene region is observed in members of a Turkish family with beta- thalassemia
    • Diaz-Chico JC, Yang KG, Kutlar A, Reese AL, Aksoy M, Huisman TH. An approximately 300 bp deletion involving part of the 5′ beta-globin gene region is observed in members of a Turkish family with beta- thalassemia. Blood 1987; 70:583-6.
    • (1987) Blood , vol.70 , pp. 583-586
    • Diaz-Chico, J.C.1    Yang, K.G.2    Kutlar, A.3    Reese, A.L.4    Aksoy, M.5    Huisman, T.H.6
  • 40
    • 0024583882 scopus 로고
    • Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA
    • Thein SL, Hesketh C, Brown JM, Anstey AV, Weatherall DJ. Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA. Blood 1989; 73:924-30.
    • (1989) Blood , vol.73 , pp. 924-930
    • Thein, S.L.1    Hesketh, C.2    Brown, J.M.3    Anstey, A.V.4    Weatherall, D.J.5
  • 42
    • 0013868614 scopus 로고
    • A new genetic variant of beta-thalassaemia
    • Schokker RC, Went LN, Bok J. A new genetic variant of beta-thalassaemia. Nature 1966; 209:44-6.
    • (1966) Nature , vol.209 , pp. 44-46
    • Schokker, R.C.1    Went, L.N.2    Bok, J.3
  • 43
    • 0027202405 scopus 로고
    • Beta-thalassemia unlinked to the beta-globin gene in an English family
    • Thein SL, Wood WG, Wickramasinghe SN, Galvin MC. Beta-thalassemia unlinked to the beta-globin gene in an English family. Blood 1993; 82:961-7.
    • (1993) Blood , vol.82 , pp. 961-967
    • Thein, S.L.1    Wood, W.G.2    Wickramasinghe, S.N.3    Galvin, M.C.4
  • 44
    • 0026723551 scopus 로고
    • A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family
    • Murru S, Loudianos G, Porcu S, Sciarratta GV, Agosti S, Parodi MI, et al. A beta-thalassaemia phenotype not linked to the beta-globin cluster in an Italian family. Br J Haematol 1992; 81:283-7.
    • (1992) Br J Haematol , vol.81 , pp. 283-287
    • Murru, S.1    Loudianos, G.2    Porcu, S.3    Sciarratta, G.V.4    Agosti, S.5    Parodi, M.I.6
  • 45
    • 0028979658 scopus 로고
    • Beta-thalassaemia unlinked to the beta-globin gene interacts with sickle-cell trait in a Portuguese family
    • Pacheco P, Peres MJ, Faustino P, Pischedda C, Goncalves J, Carvajales-Ramos M, et al. Beta-thalassaemia unlinked to the beta-globin gene interacts with sickle-cell trait in a Portuguese family. Br J Haematol 1995; 91:85-9.
    • (1995) Br J Haematol , vol.91 , pp. 85-89
    • Pacheco, P.1    Peres, M.J.2    Faustino, P.3    Pischedda, C.4    Goncalves, J.5    Carvajales-Ramos, M.6
  • 49
    • 0025762515 scopus 로고
    • Molecular characterization of beta-thalassemia intermedia in patients of italian descent and identification of three novel beta-thalassemia mutations
    • Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta GV, Agosti S, et al. Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. Blood 1991; 77:1342-7.
    • (1991) Blood , vol.77 , pp. 1342-1347
    • Murru, S.1    Loudianos, G.2    Deiana, M.3    Camaschella, C.4    Sciarratta, G.V.5    Agosti, S.6
  • 50
    • 85047689869 scopus 로고
    • Beta + thalassemia-Portuguese type: Clinical, haematological and molecular studies of a newly defined form of beta thalassaemia
    • Tamagnini GP, Lopes MC, Castanheira ME, Wainscoat JS, Wood WG. Beta + thalassemia-Portuguese type: clinical, haematological and molecular studies of a newly defined form of beta thalassaemia. Br J Haematol 1983; 54:189-200.
    • (1983) Br J Haematol , vol.54 , pp. 189-200
    • Tamagnini, G.P.1    Lopes, M.C.2    Castanheira, M.E.3    Wainscoat, J.S.4    Wood, W.G.5
  • 51
    • 0023741186 scopus 로고
    • The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: Application to prenatal diagnosis
    • Thein SL, Hesketh C, Wallace RB, Weatherall DJ. The molecular basis of thalassaemia major and thalassaemia intermedia in Asian Indians: application to prenatal diagnosis. Br J Haematol 1988; 70:225-31.
    • (1988) Br J Haematol , vol.70 , pp. 225-231
    • Thein, S.L.1    Hesketh, C.2    Wallace, R.B.3    Weatherall, D.J.4
  • 52
    • 0031972656 scopus 로고    scopus 로고
    • Beta-thalassaemia intermedia: Is it possible consistently to predict phenotype from genotype?
    • Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL. Beta-thalassaemia intermedia: is it possible consistently to predict phenotype from genotype? Br J Haematol 1998; 100:70-8.
    • (1998) Br J Haematol , vol.100 , pp. 70-78
    • Ho, P.J.1    Hall, G.W.2    Luo, L.Y.3    Weatherall, D.J.4    Thein, S.L.5
  • 54
    • 0014598807 scopus 로고
    • Globin chain synthesis in the alpha thalassemia syndromes
    • Kan YW, Schwartz E, Nathan DG. Globin chain synthesis in the alpha thalassemia syndromes. J Clin Invest 1969; 47:2512-22.
    • (1969) J Clin Invest , vol.47 , pp. 2512-2522
    • Kan, Y.W.1    Schwartz, E.2    Nathan, D.G.3
  • 56
    • 0031872838 scopus 로고    scopus 로고
    • Relationship between genotype and phenotype. Thalassemia intermedia
    • Galanello R, Cao A. Relationship between genotype and phenotype. Thalassemia intermedia. Ann N Y Acad Sci 1998; 850:325-33.
    • (1998) Ann N Y Acad Sci , vol.850 , pp. 325-333
    • Galanello, R.1    Cao, A.2
  • 58
    • 0032446434 scopus 로고    scopus 로고
    • β-Thalassemia Bailliere's
    • Thein S. β-Thalassemia Bailliere's. ClinHematol 1998; 11:91-126.
    • (1998) ClinHematol , vol.11 , pp. 91-126
    • Thein, S.1
  • 59
    • 0025905754 scopus 로고
    • Delta beta thalassemia and hereditary persistence of fetal hemoglobin
    • Bollekens JA, Forget BG. Delta beta thalassemia and hereditary persistence of fetal hemoglobin. Hematol Oncol Clin North Am 1991; 5:399-422.
    • (1991) Hematol Oncol Clin North Am , vol.5 , pp. 399-422
    • Bollekens, J.A.1    Forget, B.G.2
  • 60
    • 0018087680 scopus 로고
    • Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: Direct determination of gene linkage and intergene distance
    • Flavell RA, Kooter JM, De Boer E, Little PF, Williamson R. Analysis of the beta-delta-globin gene loci in normal and Hb Lepore DNA: direct determination of gene linkage and intergene distance. Cell 1978; 15:25-41.
    • (1978) Cell , vol.15 , pp. 25-41
    • Flavell, R.A.1    Kooter, J.M.2    De Boer, E.3    Little, P.F.4    Williamson, R.5
  • 62
    • 0025891950 scopus 로고
    • Human gamma-globin genes silenced independently of other genes in the beta-globin locus
    • Dillon N, Grosveld F. Human gamma-globin genes silenced independently of other genes in the beta-globin locus. Nature 1991; 350:252-4.
    • (1991) Nature , vol.350 , pp. 252-254
    • Dillon, N.1    Grosveld, F.2
  • 64
    • 0021355531 scopus 로고
    • Multiple mutations produce delta beta 0 thalassemia in Sardinia
    • Pirastu M, Kan YW, Galanello R, Cao A. Multiple mutations produce delta beta 0 thalassemia in Sardinia. Science 1984; 223:929-30.
    • (1984) Science , vol.223 , pp. 929-930
    • Pirastu, M.1    Kan, Y.W.2    Galanello, R.3    Cao, A.4
  • 65
    • 0023213618 scopus 로고
    • Sardinian delta beta zero-thalassemia: A further example of a C to T substitution at position -196 of the A gamma globin gene promoter
    • Ottolenghi S, Giglioni B, Pulazzini A, Comi P, Camaschella C, Serra A, et al. Sardinian delta beta zero-thalassemia: a further example of a C to T substitution at position -196 of the A gamma globin gene promoter. Blood 1987; 69:1058-61.
    • (1987) Blood , vol.69 , pp. 1058-1061
    • Ottolenghi, S.1    Giglioni, B.2    Pulazzini, A.3    Comi, P.4    Camaschella, C.5    Serra, A.6
  • 66
    • 0022006714 scopus 로고
    • DNA sequence variation associated with elevated fetal G gamma globin production
    • Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal G gamma globin production. Blood 1985; 66:783-7.
    • (1985) Blood , vol.66 , pp. 783-787
    • Gilman, J.G.1    Huisman, T.H.2
  • 67
    • 0019518167 scopus 로고
    • Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin
    • Cappellini MD, Fiorelli G, Bernini LF. Interaction between homozygous beta (0) thalassaemia and the Swiss type of hereditary persistence of fetal haemoglobin. Br J Haematol 1981; 48:561-72.
    • (1981) Br J Haematol , vol.48 , pp. 561-572
    • Cappellini, M.D.1    Fiorelli, G.2    Bernini, L.F.3
  • 68
    • 0024780661 scopus 로고
    • A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex
    • Thein SL, Weatherall DJ. A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex. Prog Clin Biol Res 1989; [...]:97-111.
    • (1989) Prog Clin Biol Res , pp. 97-111
    • Thein, S.L.1    Weatherall, D.J.2
  • 69
    • 0012401017 scopus 로고
    • Beta-thalassemia in Chinese: Use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects
    • Cheng TC, Orkin SH, Antonarakis SE, Potter MJ, Sexton JP, Markham AF, et al. beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. Proc Natl Acad Sci USA 1984; 81:2821-5.
    • (1984) Proc Natl Acad Sci USA , vol.81 , pp. 2821-2825
    • Cheng, T.C.1    Orkin, S.H.2    Antonarakis, S.E.3    Potter, M.J.4    Sexton, J.P.5    Markham, A.F.6
  • 70
    • 0030065604 scopus 로고    scopus 로고
    • Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach
    • Craig JE, Rochette J, Fisher CA, Weatherall DJ, Marc S, Lathrop GM, et al. Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nat Genet 1996; 12:58-64.
    • (1996) Nat Genet , vol.12 , pp. 58-64
    • Craig, J.E.1    Rochette, J.2    Fisher, C.A.3    Weatherall, D.J.4    Marc, S.5    Lathrop, G.M.6
  • 72
    • 0019972564 scopus 로고
    • Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia
    • Goossens M, Lee KY, Liebhaber SA, Kan YW. Globin structural mutant alpha 125Leu leads to Pro is a novel cause of alpha-thalassaemia Nature 1982; 296:864-5.
    • (1982) Nature , vol.296 , pp. 864-865
    • Goossens, M.1    Lee, K.Y.2    Liebhaber, S.A.3    Kan, Y.W.4
  • 73
    • 0026717676 scopus 로고
    • Two beta-thalassemia mutations in Japan: Codon 121 (GAA - TAA) and IVS-1-130 (G - C)
    • Yamamoto K, Hattori Y, Yamashiro Y, Hoshitani M, Morishita M, Ohba Y, et al. Two beta-thalassemia mutations in Japan: codon 121 (GAA - TAA) and IVS-1-130 (G - C). Hemoglobin 1992; 16:295-302.
    • (1992) Hemoglobin , vol.16 , pp. 295-302
    • Yamamoto, K.1    Hattori, Y.2    Yamashiro, Y.3    Hoshitani, M.4    Morishita, M.5    Ohba, Y.6
  • 74
    • 0026043736 scopus 로고
    • A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype
    • Hall GW, Franklin IM, Sura T, Thein SL. A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype. Br J Haematol 1991; 79:342-4.
    • (1991) Br J Haematol , vol.79 , pp. 342-344
    • Hall, G.W.1    Franklin, I.M.2    Sura, T.3    Thein, S.L.4
  • 75
    • 0026704542 scopus 로고
    • Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene
    • Kazazian HH, Jr., Dowling CE, Hurwitz RL, Coleman M, Stopeck A, Adams JGd. Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene Blood 1992; 79:3014-8.
    • (1992) Blood , vol.79 , pp. 3014-3018
    • Kazazian H.H., Jr.1    Dowling, C.E.2    Hurwitz, R.L.3    Coleman, M.4    Stopeck, A.5    Adams, J.Gd.6
  • 76
    • 0025239128 scopus 로고
    • A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype
    • Ristaldi MS, Pirastu M, Murru S, Casula L, Loudianos G, Cao A, et al. A spontaneous mutation produced a novel elongated beta-globin chain structural variant (Hb Agnana) with a thalassemia-like phenotype [letter]. Blood 1990; 75:1378-9.
    • (1990) Blood , vol.75 , pp. 1378-1379
    • Ristaldi, M.S.1    Pirastu, M.2    Murru, S.3    Casula, L.4    Loudianos, G.5    Cao, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.