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Volumn 28, Issue 1, 2004, Pages 59-63

Two New α Chain Variants: Hb Die [α93(FG5)Val→Ala (α1)] and Hb Beziers [α99(G6)Lys→Asn (α1)]

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARAGINE; ERYTHROPOIETIN; HEMOGLOBIN BEZIERS; HEMOGLOBIN DIE; HEMOGLOBIN VARIANT; LYSINE; UNCLASSIFIED DRUG; VALINE;

EID: 1342345048     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120028888     Document Type: Article
Times cited : (7)

References (14)
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    • Lacan P, Kister J, Francina A, Souillet G, Galactéros F, Delaunay J, Wajcman H. Hemoglobin Debrousse [β96(FG3)Leu→Pro]: a new unstable hemoglobin with two-fold increased oxygen affinity. Am J Hematol 1996; 51(4):276-281.
    • (1996) Am J Hematol , vol.51 , Issue.4 , pp. 276-281
    • Lacan, P.1    Kister, J.2    Francina, A.3    Souillet, G.4    Galactéros, F.5    Delaunay, J.6    Wajcman, H.7
  • 2
    • 0028838819 scopus 로고
    • A new α chain variant Hb Sallanches [α2 104(G11)Cys→Tyr] associated with Hb H disease in one homozygous patient
    • Morlé F, Francina A, Ducrocq R, Wajcman H, Gonnet C, Philippe N, Souillet G, Godet J. A new α chain variant Hb Sallanches [α2 104(G11)Cys→Tyr] associated with Hb H disease in one homozygous patient. Br J Haematol 1995; 91(3):608-611.
    • (1995) Br J Haematol , vol.91 , Issue.3 , pp. 608-611
    • Morlé, F.1    Francina, A.2    Ducrocq, R.3    Wajcman, H.4    Gonnet, C.5    Philippe, N.6    Souillet, G.7    Godet, J.8
  • 3
    • 0028286559 scopus 로고
    • Detection of globin chains by reversed-phase high-performance liquid chromatography
    • Masala B, Manca L. Detection of globin chains by reversed-phase high-performance liquid chromatography. Methods Enzymol 1994; 231:21-44.
    • (1994) Methods Enzymol , vol.231 , pp. 21-44
    • Masala, B.1    Manca, L.2
  • 4
    • 0025135102 scopus 로고
    • Locus assignment of human α globin mutations by selective amplification and direct sequencing
    • Dodé C, Rochette J, Krishnamoorthy R. Locus assignment of human α globin mutations by selective amplification and direct sequencing. Br J Haematol 1990; 76(2):275-281.
    • (1990) Br J Haematol , vol.76 , Issue.2 , pp. 275-281
    • Dodé, C.1    Rochette, J.2    Krishnamoorthy, R.3
  • 6
    • 0033983971 scopus 로고    scopus 로고
    • Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia
    • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood 2000; 95(1):360-362.
    • (2000) Blood , vol.95 , Issue.1 , pp. 360-362
    • Chong, S.S.1    Boehm, C.D.2    Higgs, D.R.3    Cutting, G.R.4
  • 7
    • 0028172744 scopus 로고
    • The difference in quantities of α2- and α1-globin gene variants in heterozygotes
    • Molchanova TP, Pobedimskaya DD, Huisman THJ. The difference in quantities of α2- and α1-globin gene variants in heterozygotes. Br J Haematol 1994; 88(2):300-306.
    • (1994) Br J Haematol , vol.88 , Issue.2 , pp. 300-306
    • Molchanova, T.P.1    Pobedimskaya, D.D.2    Huisman, T.H.J.3
  • 9
    • 0005695445 scopus 로고    scopus 로고
    • Disorders of hemoglobin, function and stability
    • Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Cambridge: Cambridge University Press
    • Nagel RL. Disorders of hemoglobin, function and stability. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin: Genetics, Patholophysiology, and Clinical Management. Cambridge: Cambridge University Press, 2001; 1155-1194.
    • (2001) Disorders of Hemoglobin: Genetics, Patholophysiology, and Clinical Management , pp. 1155-1194
    • Nagel, R.L.1
  • 10
    • 0016721474 scopus 로고
    • A new unstable hemoglobin mutated in β98(FG5)Val→Ala: Hb Djelfa
    • Gacon G, Wajcman H, Labie D, Cosson A. A new unstable hemoglobin mutated in β98(FG5)Val→Ala: Hb Djelfa. FEBS Lett 1975; 58(1):238-240.
    • (1975) FEBS Lett , vol.58 , Issue.1 , pp. 238-240
    • Gacon, G.1    Wajcman, H.2    Labie, D.3    Cosson, A.4
  • 12
    • 0032995151 scopus 로고    scopus 로고
    • Characterization of Hb Djelfa [β98(FG5)Val→Ala] by DNA sequencing in a French Caucasian family
    • Lacan P, Aubry M, Francina A, Couprie N, Dementhon L, Becchi M. Characterization of Hb Djelfa [β98(FG5)Val→Ala] by DNA sequencing in a French Caucasian family. Hemoglobin 1999; 23(1):73-77.
    • (1999) Hemoglobin , vol.23 , Issue.1 , pp. 73-77
    • Lacan, P.1    Aubry, M.2    Francina, A.3    Couprie, N.4    Dementhon, L.5    Becchi, M.6
  • 14
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    • The mutation of Hb Turiff [α99(G6)Lys→Glu (AAG→GAG)] is carried by the α1-globin gene in a Japanese (Hb Turriff-I)
    • Harano T, Harano K, Hong Y-F, Than AM, Suctsugu Y, Ohba K. The mutation of Hb Turiff [α99(G6)Lys→Glu (AAG→GAG)] is carried by the α1-globin gene in a Japanese (Hb Turriff-I). Hemoglobin 2003; 27(2):123-127.
    • (2003) Hemoglobin , vol.27 , Issue.2 , pp. 123-127
    • Harano, T.1    Harano, K.2    Hong, Y.-F.3    Than, A.M.4    Suctsugu, Y.5    Ohba, K.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.