메뉴 건너뛰기




Volumn 33, Issue 2, 2004, Pages 153-157

Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India

Author keywords

thalassemia mutations; India; Phenotypes

Indexed keywords

BETA GLOBIN;

EID: 4143121075     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2004.05.002     Document Type: Article
Times cited : (31)

References (20)
  • 2
    • 0002804385 scopus 로고
    • The thalassemias
    • D.J. Weatherall Churchill Livingstone Edinburgh
    • J.M. Old, and D.R. Higgs The thalassemias D.J. Weatherall Methods Hematol. vol. 6 1983 Churchill Livingstone Edinburgh 74 102
    • (1983) Methods Hematol. , vol.6 , pp. 74-102
    • Old, J.M.1    Higgs, D.R.2
  • 4
    • 0025887115 scopus 로고
    • The spectrum of β-thalassemia mutations on the Indian subcontinent: The basis for prenatal diagnosis
    • N.Y. Varawalla, J.M. Old, R. Sarkar, R. Venkatesan, and D.J. Weatherall The spectrum of β-thalassemia mutations on the Indian subcontinent: the basis for prenatal diagnosis Br. J. Hematol. 78 1991 242 247
    • (1991) Br. J. Hematol. , vol.78 , pp. 242-247
    • Varawalla, N.Y.1    Old, J.M.2    Sarkar, R.3    Venkatesan, R.4    Weatherall, D.J.5
  • 8
    • 0000844285 scopus 로고    scopus 로고
    • Molecular mechanisms in β-thalassemia
    • M.H. Steinberg B.G. Forget D.R. Higgs R.L. Nagel Cambridge Univ. Press Cambridge
    • B.G. Forget Molecular mechanisms in β-thalassemia M.H. Steinberg B.G. Forget D.R. Higgs R.L. Nagel Disorders of Hemoglobin 2001 Cambridge Univ. Press Cambridge 252 276
    • (2001) Disorders of Hemoglobin , pp. 252-276
    • Forget, B.G.1
  • 9
    • 0031012244 scopus 로고    scopus 로고
    • Genetic analysis of β-thalassemia intermedia in Israel: Diversity of mechanisms and unpredictability of phenotype
    • D. Rund, V. Oron-Karni, D. Filon, A. Gold farb, E. Rachmilewitz, and A. Oppenheim Genetic analysis of β-thalassemia intermedia in Israel: diversity of mechanisms and unpredictability of phenotype Am. J. Hematol. 54 1997 16 22
    • (1997) Am. J. Hematol. , vol.54 , pp. 16-22
    • Rund, D.1    Oron-Karni, V.2    Filon, D.3    Gold Farb, A.4    Rachmilewitz, E.5    Oppenheim, A.6
  • 13
    • 0031972656 scopus 로고    scopus 로고
    • β-thalassemia intermedia: Is it possible consistently to predict phenotype from genotype?
    • P.J. Ho, G.W. Hall, L.Y. Luo, D.J. Weatherall, and S.L. Thein β-thalassemia intermedia: is it possible consistently to predict phenotype from genotype? Br. J. Hematol. 100 1998 70 78
    • (1998) Br. J. Hematol. , 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
  • 16
    • 0023601968 scopus 로고
    • Characterization of β-thalassemic mutations using direct genomic sequencing of amplified single copy DNA
    • C. Wong, C.E. Dowling, R.K. Saiki, R.G. Higuchi, H.A. Erlich, and H.H. Kazazian Jr. Characterization of β-thalassemic mutations using direct genomic sequencing of amplified single copy DNA Nature 330 1987 384 386
    • (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 Jr., H.H.6
  • 17
    • 0022021842 scopus 로고
    • Thalassemia due to a mutation in the cleavage polyadenylation signal of the human β globin gene
    • S.H. Orkin, T.C. Cheng, S.E. Antonarakis, and H.H. Kazazian Jr. Thalassemia due to a mutation in the cleavage polyadenylation signal of the human β globin gene EMBO J. 4 1985 453 456
    • (1985) EMBO J. , vol.4 , pp. 453-456
    • Orkin, S.H.1    Cheng, T.C.2    Antonarakis, S.E.3    Kazazian Jr., H.H.4
  • 18
    • 0025874623 scopus 로고
    • A mild thalassemia major resulting from a compound heterozygosity for the IVS II-1 (G→A) mutation and the rare T→C mutation at the polyadenylation site
    • C. Altay, A. Gurgey, R. Oner, A. Kutlar, F. Kutlar, and T.H.J. Huisman A mild thalassemia major resulting from a compound heterozygosity for the IVS II-1 (G→A) mutation and the rare T→C mutation at the polyadenylation site Hemoglobin 15 1991 327 330
    • (1991) Hemoglobin , vol.15 , pp. 327-330
    • Altay, C.1    Gurgey, A.2    Oner, R.3    Kutlar, A.4    Kutlar, F.5    Huisman, T.H.J.6
  • 19
    • 0031009450 scopus 로고    scopus 로고
    • A novel β-thalassemia mutation (codon 10 GCC→GCA) and a rare transcriptional mutation-28 (A→G) in Indians
    • A.R. Pawar, R. Colah, and D. Mohanty A novel β-thalassemia mutation (codon 10 GCC→GCA) and a rare transcriptional mutation-28 (A→G) in Indians Blood 89 1997 3888 3889
    • (1997) Blood , vol.89 , pp. 3888-3889
    • Pawar, A.R.1    Colah, R.2    Mohanty, D.3
  • 20
    • 0032020108 scopus 로고    scopus 로고
    • The β and δ thalassemia repository
    • T.H.J. Huisman, and M.F.H. Carver The β and δ thalassemia repository Hemoglobin 22 1998 169 195
    • (1998) Hemoglobin , vol.22 , pp. 169-195
    • Huisman, T.H.J.1    Carver, M.F.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.