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Volumn 88, Issue 10, 2003, Pages 1191-1193

A rare β-thalassemia mutation (C-T) at position -90 of the β-globin gene discovered in a Chinese family

Author keywords

globin gene; thalassemia; Transcription mutation

Indexed keywords

BETA GLOBIN; CYTOSINE; GLOBIN; THYMIDINE;

EID: 0242267556     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (7)

References (9)
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    • Ko, T.M.1    Xu, X.2
  • 3
    • 0033693154 scopus 로고    scopus 로고
    • Two novel β-thalassemia alleles in the Chinese: The IVS-II-2 (-T) and nucleotide +8(C→T) β-globin gene mutations
    • Ma SK, Ha SY, Chan AY, Chan GC, Lau YL, Chan LC. Two novel β-thalassemia alleles in the Chinese: the IVS-II-2 (-T) and nucleotide +8(C→T) β-globin gene mutations. Hemoglobin 2000;24:327-32.
    • (2000) Hemoglobin , vol.24 , pp. 327-332
    • Ma, S.K.1    Ha, S.Y.2    Chan, A.Y.3    Chan, G.C.4    Lau, Y.L.5    Chan, L.C.6
  • 5
    • 0000889576 scopus 로고
    • A Rapid reverse dot blot assay for all 18 β-thalassemia mutations in Chinese population
    • Zhang JZ, Xu XM, Ma WF, Shang YX. A Rapid reverse dot blot assay for all 18 β-thalassemia mutations in Chinese population. J Med Coll PLA 1993;8:213-9.
    • (1993) J Med Coll PLA , vol.8 , pp. 213-219
    • Zhang, J.Z.1    Xu, X.M.2    Ma, W.F.3    Shang, Y.X.4
  • 6
    • 0242275102 scopus 로고
    • Direct genotyping and prenatal diagnosis of deletional β-thalassemia of the Southeast Asian type by polymerase chain reaction technique
    • Xu XM, Ma WF, Li SK, Xu Q, Zhang JZ. Direct genotyping and prenatal diagnosis of deletional β-thalassemia of the Southeast Asian type by polymerase chain reaction technique. J Med Coll PLA 1992;7:322-7.
    • (1992) J Med Coll PLA , vol.7 , pp. 322-327
    • Xu, X.M.1    Ma, W.F.2    Li, S.K.3    Xu, Q.4    Zhang, J.Z.5
  • 7
    • 0034960097 scopus 로고    scopus 로고
    • Rapid detection of the common β-thalassemia-2 determinants by PCR assay
    • Zhao Y, Zhong M, Liu Z, Xu X. Rapid detection of the common β-thalassemia-2 determinants by PCR assay. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2001;18:216-8.
    • (2001) Zhonghua Yi Xue Yi Chuan Xue Za Zhi , vol.18 , pp. 216-218
    • Zhao, Y.1    Zhong, M.2    Liu, Z.3    Xu, X.4
  • 8
    • 0028283201 scopus 로고
    • Diagnosis of thalassaemia by non-isotope detection of α/β and ζ/α mRNA ratios
    • Lin SF, Liu TC, Chen TP, Chiou SS, Liu HW, Chang JG. Diagnosis of thalassaemia by non-isotope detection of α/β and ζ/α mRNA ratios. Br J Haematol 1994;87:133-8.
    • (1994) Br J Haematol , vol.87 , pp. 133-138
    • Lin, S.F.1    Liu, T.C.2    Chen, T.P.3    Chiou, S.S.4    Liu, H.W.5    Chang, J.G.6
  • 9
    • 0026767505 scopus 로고
    • Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population
    • Faustino P, Osorio-Almeida L, Barbot J, Espirito-Santo D, Goncalves J, Romao L, et al. Novel promoter and splice junction defects add to the genetic, clinical or geographic heterogeneity of β-thalassaemia in the Portuguese population. Hum Genet 1992;89:573-6.
    • (1992) Hum Genet , vol.89 , pp. 573-576
    • Faustino, P.1    Osorio-Almeida, L.2    Barbot, J.3    Espirito-Santo, D.4    Goncalves, J.5    Romao, L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.