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Volumn 23, Issue 3, 1999, Pages 255-261

Spectrum of β-thalassemia mutations in Egypt

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BETA THALASSEMIA; DISEASE SEVERITY; EGYPT; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; SEQUENCE ANALYSIS;

EID: 0032819214     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269909005706     Document Type: Article
Times cited : (16)

References (20)
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    • Prevention of β-thalassemia major and Hb Bart's hydrops fetalis syndrome
    • Beris, P., Darbellay, R., and Extermann, P.: Prevention of β-thalassemia major and Hb Bart's hydrops fetalis syndrome. Semin. Hematol., 32: 244-261, 1995.
    • (1995) Semin. Hematol. , vol.32 , pp. 244-261
    • Beris, P.1    Darbellay, R.2    Extermann, P.3
  • 3
    • 0029609935 scopus 로고
    • Prenatal screening for haemoglobin disorders
    • Petrou, M. and Modell, B.: Prenatal screening for haemoglobin disorders. Prenat. Diagn., 15: 1275-1295, 1995.
    • (1995) Prenat. Diagn. , vol.15 , pp. 1275-1295
    • Petrou, M.1    Modell, B.2
  • 5
    • 0020419194 scopus 로고
    • Thalassemia in the Egyptian population
    • Habib, Z. and Book, J.A.: Thalassemia in the Egyptian population. Hereditas, 96: 149-158, 1982.
    • (1982) Hereditas , vol.96 , pp. 149-158
    • Habib, Z.1    Book, J.A.2
  • 11
    • 0031018840 scopus 로고    scopus 로고
    • Identification of novel Asian Indian and Japanese mutations causing β-thalassemia in the Egyptian population
    • El-Hashemite, N., Petrou, M., Khalifa, A.S., Heshmat, N.M., Rady, M.S., and Delhanty, J.D.A.: Identification of novel Asian Indian and Japanese mutations causing β-thalassemia in the Egyptian population. Hum. Genet., 99: 271-274, 1997.
    • (1997) Hum. Genet. , vol.99 , pp. 271-274
    • El-Hashemite, N.1    Petrou, M.2    Khalifa, A.S.3    Heshmat, N.M.4    Rady, M.S.5    Delhanty, J.D.A.6
  • 13
    • 0025132614 scopus 로고
    • A new β-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG→AA)
    • Deidda, G., Novelletto, A., Hafez, M., Al-Tonbary, Y., Felicetti, L., Terrenato, L., and Colombo, B.: A new β-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG→AA). Hemoglobin, 14: 431-440, 1990.
    • (1990) Hemoglobin , vol.14 , pp. 431-440
    • Deidda, G.1    Novelletto, A.2    Hafez, M.3    Al-Tonbary, Y.4    Felicetti, L.5    Terrenato, L.6    Colombo, B.7
  • 14
    • 0026010417 scopus 로고
    • A new β-thalassemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides
    • Deidda, G., Novelletto, A., Hafez, M., El-Ziny, M., Terrenato, L., and Felicetti, L.: A new β-thalassemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides. Br. J. Haematol., 79: 90-92, 1991.
    • (1991) Br. J. Haematol. , vol.79 , pp. 90-92
    • Deidda, G.1    Novelletto, A.2    Hafez, M.3    El-Ziny, M.4    Terrenato, L.5    Felicetti, L.6
  • 16
    • 0012953756 scopus 로고
    • γδβ-Thalassemia due to a de novo mutation deleting the 5′ β-globin gene activation-region hypersensitive sites
    • Driscoll, M.C., Dobkin, C.S., and Alter, B.P.: γδβ-Thalassemia due to a de novo mutation deleting the 5′ β-globin gene activation-region hypersensitive sites. Proc. Natl. Acad. Sci. USA, 86: 7470-7474, 1989.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 7470-7474
    • Driscoll, M.C.1    Dobkin, C.S.2    Alter, B.P.3
  • 18
    • 0028244389 scopus 로고
    • The molecular basis of β-thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α-globin loci
    • Garewal, G., Fearon, C.W., Warren, T.C., Marwaha, N., Marwaha, R.K., Mahadik, C., and Kazazian, H.H., Jr.: The molecular basis of β-thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α-globin loci. Br. J.Haematol., 86: 372-376, 1994.
    • (1994) Br. J.Haematol. , vol.86 , pp. 372-376
    • Garewal, G.1    Fearon, C.W.2    Warren, T.C.3    Marwaha, N.4    Marwaha, R.K.5    Mahadik, C.6    Kazazian Jr., H.H.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.