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Volumn 23, Issue 4, 1999, Pages 339-344

Characterization of a new polymorphism, IVS-I-108 (T→C), and a new β- thalassemia mutation,-27 (A→T), discovered in the course of a prenatal diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN; HEMOGLOBIN A2; HEMOGLOBIN F; NUCLEOTIDE;

EID: 0032755656     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.3109/03630269909090749     Document Type: Article
Times cited : (18)

References (17)
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    • Orkin, S., Kazazian, H.H., Jr., Antonarakis, S.E, Goff, S.C., Boehm, C., Sexon, J.B., Waber, P.O., and Giardina, P.J.V.: Linkage of β-thalassemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster. Nature, 296: 627-631, 1982.
    • (1982) Nature , vol.296 , pp. 627-631
    • Orkin, S.1    Kazazian H.H., Jr.2    Antonarakis, S.E.3    Goff, S.C.4    Boehm, C.5    Sexon, J.B.6    Waber, P.O.7    Giardina, P.J.V.8
  • 5
    • 0027449674 scopus 로고
    • Rapid and simultaneous typing of Hemoglobin S, Hemoglobin C and seven Mediterranean β-thalassemia mutations by covalent reverse dot blot analysis: Application to prenatal diagnosis in Sicily
    • Maggio, A., Giambona, A., Cai, S.P., Wall, J., Kan, Y.W., and Chehab, F.F.: Rapid and simultaneous typing of Hemoglobin S, Hemoglobin C and seven Mediterranean β-thalassemia mutations by covalent reverse dot blot analysis: application to prenatal diagnosis in Sicily. Blood, 81:239-242, 1993.
    • (1993) Blood , vol.81 , pp. 239-242
    • Maggio, A.1    Giambona, A.2    Cai, S.P.3    Wall, J.4    Kan, Y.W.5    Chehab, F.F.6
  • 6
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita, M., Hiroyuki, I., Kanazawa, H., Hayashi, K., and Sekiya, T.: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA, 86:2766-2770, 1989.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Hiroyuki, I.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 7
    • 0027018911 scopus 로고
    • A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms
    • Ghanem, N., Girodon, E., Vidaud, M., Martin, J., Fanen, P., Plassa, F., and Goossens, M.: A comprehensive scanning method for rapid detection of β-globin gene mutations and polymorphisms. Hum. Mutat., 1:229-239, 1992.
    • (1992) Hum. Mutat. , vol.1 , pp. 229-239
    • Ghanem, N.1    Girodon, E.2    Vidaud, M.3    Martin, J.4    Fanen, P.5    Plassa, F.6    Goossens, M.7
  • 10
    • 0020724929 scopus 로고
    • Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit β-globin gene in mouse 3T6 cells
    • Dierks, P., van Ooyen, A., Cochran, M., Dobkin, C., Reiser, J., and Weissman, C.: Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit β-globin gene in mouse 3T6 cells. Cell, 32:695-706, 1983.
    • (1983) Cell , vol.32 , pp. 695-706
    • Dierks, P.1    Van Ooyen, A.2    Cochran, M.3    Dobkin, C.4    Reiser, J.5    Weissman, C.6
  • 11
    • 0023040149 scopus 로고
    • Fine structure genetic analysis of a β-globin gene promoter
    • Myers, R.M., Tilly, K., and Maniatis, T.: Fine structure genetic analysis of a β-globin gene promoter. Science, 232:613-618, 1986.
    • (1986) Science , vol.232 , pp. 613-618
    • Myers, R.M.1    Tilly, K.2    Maniatis, T.3
  • 14
    • 0024321447 scopus 로고
    • A new TATA box mutation detected in prenatal diagnosis
    • Cai, S.P., Zeng, J.Z., Doherty, M., and Kan, Y.W.: A new TATA box mutation detected in prenatal diagnosis. Am. J. Hum. Genet., 45:112-114, 1989.
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 112-114
    • Cai, S.P.1    Zeng, J.Z.2    Doherty, M.3    Kan, Y.W.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.