메뉴 건너뛰기




Volumn 29, Issue 1, 2005, Pages 19-25

Hb Showa-Yakushiji [β110(G12)Leu→Pro] in four unrelated patients from West Bengal

Author keywords

Thalassemia (thal); Hb E; Hb Showa Yakushiji; India

Indexed keywords

ALPHA GLOBIN; BETA GLOBIN; HEMOGLOBIN SHOWA YAKUSHIJI; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

EID: 14644416631     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-200047613     Document Type: Article
Times cited : (5)

References (10)
  • 1
    • 14644427687 scopus 로고
    • Distribution and control of some genetic disorders
    • Modell B, Bulyzhenkov V. Distribution and control of some genetic disorders. World Health Stat Q 1989; 82:255-258.
    • (1989) World Health Stat Q , vol.82 , pp. 255-258
    • Modell, B.1    Bulyzhenkov, V.2
  • 2
    • 0025333142 scopus 로고
    • Structural hemoglobin variants that produce the phenotype of thalassemia
    • Adams JG, Coleman MB. Structural hemoglobin variants that produce the phenotype of thalassemia. Semin Hematol 1990; 27(3):229-238.
    • (1990) Semin Hematol , vol.27 , Issue.3 , pp. 229-238
    • Adams, J.G.1    Coleman, M.B.2
  • 3
    • 0023551292 scopus 로고
    • A novel globin structural mutant, Showa Yakushiji (β110 Leu→Pro) causing a β thalassemia phenotype
    • Kobayashi Y, Fukumaki Y, Komatsu N, Ohba Y, Miyaji T, Miura Y. A novel globin structural mutant, Showa Yakushiji (β110 Leu→Pro) causing a β thalassemia phenotype. Blood 1987; 70(5):1688-1691.
    • (1987) Blood , vol.70 , Issue.5 , pp. 1688-1691
    • Kobayashi, Y.1    Fukumaki, Y.2    Komatsu, N.3    Ohba, Y.4    Miyaji, T.5    Miura, Y.6
  • 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 SP, Wall J, Kan YW, Chehab FF. 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 1993; 81(1):239-242.
    • (1993) Blood , vol.81 , Issue.1 , 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
    • 0037406326 scopus 로고    scopus 로고
    • Rapid detection of β-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis
    • Shaji RV, Edison ES, Poonkuzhali B, Srivastava A, Chandy M. Rapid detection of β-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. Clin Chem 2003; 49(5):777-781.
    • (2003) Clin Chem , vol.49 , Issue.5 , pp. 777-781
    • Shaji, R.V.1    Edison, E.S.2    Poonkuzhali, B.3    Srivastava, A.4    Chandy, M.5
  • 7
    • 0024376665 scopus 로고
    • Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes
    • Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 1989; 32(1):66-69.
    • (1989) Am J Hematol , vol.32 , Issue.1 , pp. 66-69
    • Sutton, M.1    Bouhassira, E.E.2    Nagel, R.L.3
  • 8
    • 0035412399 scopus 로고    scopus 로고
    • A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia
    • Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for α-thalassemia. Blood 2001; 98(1):250-251.
    • (2001) Blood , vol.98 , Issue.1 , pp. 250-251
    • Tan, A.S.1    Quah, T.C.2    Low, P.S.3    Chong, S.S.4
  • 9
    • 0348110520 scopus 로고    scopus 로고
    • Determination of the breakpoint and molecular diagnosis of a common α-thalassaemia-1 deletion in the Indian population
    • Shaji RV, Eunice SE, Baidya S, Srivastava A, Chandy M. Determination of the breakpoint and molecular diagnosis of a common α-thalassaemia-1 deletion in the Indian population. Br J Haematol 2003; 123(5):942-947.
    • (2003) Br J Haematol , vol.123 , Issue.5 , pp. 942-947
    • Shaji, R.V.1    Eunice, S.E.2    Baidya, S.3    Srivastava, A.4    Chandy, M.5
  • 10
    • 37649026095 scopus 로고    scopus 로고
    • Detection of a rare splice acceptor site mutation (IVS I nt 130 G→C) of the beta globin gene in 3 patients of Eastern India
    • Bandyopadhyay A, Bandyopadhyay S, Dasgupta UB, Chandra S, Das MK. Detection of a rare splice acceptor site mutation (IVS I nt 130 G→C) of the beta globin gene in 3 patients of Eastern India. Am J Hematol 2001; 67(2):149.
    • (2001) Am J Hematol , vol.67 , Issue.2 , pp. 149
    • Bandyopadhyay, A.1    Bandyopadhyay, S.2    Dasgupta, U.B.3    Chandra, S.4    Das, M.K.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.