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Volumn 30, Issue 5, 1997, Pages 433-437

Rapid diagnosis of β thalassemia mutations in mediterraneans by PCR and restriction analysis of natural or created sites

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BETA THALASSEMIA; GENE MUTATION; HUMAN; HUMAN CELL; NUCLEIC ACID BASE SUBSTITUTION; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION MAPPING;

EID: 0031194406     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-9120(97)00044-1     Document Type: Article
Times cited : (6)

References (14)
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    • Kazazian, H.H.1    Boehm, C.D.2
  • 2
    • 0024504090 scopus 로고
    • β thalassemia mutations in Mediterranean populations
    • 2. Cao A, Goossens M, Pirastu M. β thalassemia mutations in Mediterranean populations. Brit J Haematol 1989; 71: 309-312.
    • (1989) Brit J Haematol , vol.71 , pp. 309-312
    • Cao, A.1    Goossens, M.2    Pirastu, M.3
  • 3
    • 0024402665 scopus 로고
    • Prenatal diagnosis of β thalassemia based on restriction analysis of amplified fetal DNA
    • 3. Pirastu M, Ristaldi MS, Cao A. Prenatal diagnosis of β thalassemia based on restriction analysis of amplified fetal DNA. J Med Genet 1989; 26: 363-367.
    • (1989) J Med Genet , vol.26 , pp. 363-367
    • Pirastu, M.1    Ristaldi, M.S.2    Cao, A.3
  • 4
    • 0023022499 scopus 로고
    • Analysis of enzymatically amplified β-globin and HLA DQα DNA with allele specific oligonucleotide probes
    • 4. Saiki RK, Bugawan TL, Horn GT, Mullis MB, Erlich HA. Analysis of enzymatically amplified β-globin and HLA DQα DNA with allele specific oligonucleotide probes. Nature 1986; 324: 163-166.
    • (1986) Nature , vol.324 , pp. 163-166
    • Saiki, R.K.1    Bugawan, T.L.2    Horn, G.T.3    Mullis, M.B.4    Erlich, H.A.5
  • 5
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    • Rapid and direct detection of the most frequent Mediterranean β thalassemic mutations by multiplex allele specific enzymatic amplification
    • 5. Bienvenu T, Sebillon P, Labie D, Kaplan JC, Beldjord C. Rapid and direct detection of the most frequent Mediterranean β thalassemic mutations by multiplex allele specific enzymatic amplification. Hum Biol 1992; 64: 107-113.
    • (1992) Hum Biol , vol.64 , pp. 107-113
    • Bienvenu, T.1    Sebillon, P.2    Labie, D.3    Kaplan, J.C.4    Beldjord, C.5
  • 6
    • 0025197914 scopus 로고
    • Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: A rapid and reliable diagnostic approach to β thalassemia
    • 6. Losekoot M, Fodde R, Harteveld CL. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to β thalassemia. Brit J Haematol 1990; 76: 269-274.
    • (1990) Brit J Haematol , vol.76 , pp. 269-274
    • Losekoot, M.1    Fodde, R.2    Harteveld, C.L.3
  • 7
    • 0024560882 scopus 로고
    • Modification of enzymatically amplified DNA for the detection of point mutations
    • 7. Haliassos A, Chomel JC, Tesson L, et al. Modification of enzymatically amplified DNA for the detection of point mutations. Nucleic Acids Res 1989; 17: 3606.
    • (1989) Nucleic Acids Res , vol.17 , pp. 3606
    • Haliassos, A.1    Chomel, J.C.2    Tesson, L.3
  • 10
    • 0019797031 scopus 로고
    • A nucleotide change at a splice junction in the human β globin gene is associated with β° thalassemia
    • 10. Baird M, Driscoll C, Schreiner H, et al. A nucleotide change at a splice junction in the human β globin gene is associated with β° thalassemia. Proc Natl Acad Sci USA 1981; 78: 4218-4221.
    • (1981) Proc Natl Acad Sci USA , vol.78 , pp. 4218-4221
    • Baird, M.1    Driscoll, C.2    Schreiner, H.3
  • 11
    • 0021112775 scopus 로고
    • A β thalassemia lesion abolishes the same Mst II site as the sickle mutation
    • 11. Chang JC, Alberti A, Wai Kan Y. A β thalassemia lesion abolishes the same Mst II site as the sickle mutation. Nucleic Acids Res 1983; 22: 7789-7794.
    • (1983) Nucleic Acids Res , vol.22 , pp. 7789-7794
    • Chang, J.C.1    Alberti, A.2    Wai Kan, Y.3
  • 12
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    • Rapid detection of a Mediterranean β° splice junction mutation by DNA amplification and BsaB I mapping
    • 12. Bennani C, Sebillon P, Krishnamoorthy R, Labie D, Beldjord C. Rapid detection of a Mediterranean β° splice junction mutation by DNA amplification and BsaB I mapping. Br J Haematol 1990; 76: 440-441.
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  • 13
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    • Rapid diagnosis of β thalassemia mutations in Chinese by naturally and amplified created restriction sites
    • 13. Chang JG, Chen PH, Chiou SS, Lee LS, Perng LI, Liu TC. Rapid diagnosis of β thalassemia mutations in Chinese by naturally and amplified created restriction sites. Blood 1992; 80: 2092-2096.
    • (1992) Blood , vol.80 , pp. 2092-2096
    • Chang, J.G.1    Chen, P.H.2    Chiou, S.S.3    Lee, L.S.4    Perng, L.I.5    Liu, T.C.6
  • 14
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    • Polymerase chain reaction (PCR) mutagenesis enabling rapid non-radioactive detection of common β thalassemia mutations in Mediterraneans
    • 14. Lindeman R, Hu SP, Volpato F, Trent RJ. Polymerase chain reaction (PCR) mutagenesis enabling rapid non-radioactive detection of common β thalassemia mutations in Mediterraneans. Br J Haematol 1991; 78: 100-104.
    • (1991) Br J Haematol , vol.78 , pp. 100-104
    • Lindeman, R.1    Hu, S.P.2    Volpato, F.3    Trent, R.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.