메뉴 건너뛰기




Volumn 50, Issue 4, 2012, Pages 649-654

Detection of α-globin gene deletion and duplication using quantitative multiplex PCR of short fluorescent fragments

Author keywords

thalassemia; copy number alteration; fragment analysis; multiplex polymerase chain reaction

Indexed keywords

ALPHA GLOBIN;

EID: 84860468121     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/cclm.2011.833     Document Type: Article
Times cited : (12)

References (18)
  • 2
    • 0036676043 scopus 로고    scopus 로고
    • Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi
    • Cai R, Li L, Liang X, Liu Z, Su L, Li W, et al. Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi. Zhonghua Liu Xing Bing Xue Za Zhi 2002;23:281-5.
    • (2002) Zhonghua Liu Xing Bing Xue Za Zhi , vol.23 , pp. 281-285
    • Cai, R.1    Li, L.2    Liang, X.3    Liu, Z.4    Su, L.5    Li, W.6
  • 7
    • 0033774960 scopus 로고    scopus 로고
    • Simplifi ed multiplex- PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia
    • Chong SS, Boehm CD, Cutting GR, Higgs DR. Simplifi ed multiplex- PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia. Clin Chem 2000;46:1692-5.
    • (2000) Clin Chem , vol.46 , pp. 1692-1695
    • Chong, S.S.1    Boehm, C.D.2    Cutting, G.R.3    Higgs, D.R.4
  • 8
    • 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 alphathalassemia. Blood 2000;95:360-2. (Pubitemid 30017265)
    • (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
  • 9
    • 0035412399 scopus 로고    scopus 로고
    • A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alphathalassemia
    • Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alphathalassemia. Blood 2001;98:250-1.
    • (2001) Blood , vol.98 , pp. 250-251
    • Tan, A.S.1    Quah, T.C.2    Low, P.S.3    Chong, S.S.4
  • 12
    • 78651268097 scopus 로고    scopus 로고
    • Molecular characterization of a novel 27.6-kb deletion causing alpha( + ) thalassemia in a Chinese family
    • Wei XF, Shang X, He DQ, Huang JW, Zhang XH, Xu XM. Molecular characterization of a novel 27.6-kb deletion causing alpha( + ) thalassemia in a Chinese family. Ann Hematol 2011;90:17-22.
    • (2011) Ann Hematol , vol.90 , pp. 17-22
    • Wei, X.F.1    Shang, X.2    He, D.Q.3    Huang, J.W.4    Zhang, X.H.5    Xu, X.M.6
  • 14
    • 0034213622 scopus 로고    scopus 로고
    • Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fluorescent fragments
    • Charbonnier F, Raux G, Wang Q, Drouot N, Cordier F, Limacher JM, et al. Detection of exon deletions and duplications of the mismatch repair genes in hereditary nonpolyposis colorectal cancer families using multiplex polymerase chain reaction of short fl uorescent fragments. Cancer Res 2000;60:2760-3. (Pubitemid 30395787)
    • (2000) Cancer Research , vol.60 , Issue.11 , pp. 2760-2763
    • Charbonnier, F.1    Raux, G.2    Wang, Q.3    Drouot, N.4    Cordier, F.5    Limacher, J.-M.6    Saurin, J.-C.7    Puisieux, A.8    Olschwang, S.9    Frebourg, T.10
  • 15
    • 37249091118 scopus 로고    scopus 로고
    • Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene
    • DOI 10.1038/sj.ejhg.5201916, PII 5201916
    • Ashton EJ, Yau SC, Deans ZC, Abbs SJ. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet 2008;16:53-61. (Pubitemid 350269239)
    • (2008) European Journal of Human Genetics , vol.16 , Issue.1 , pp. 53-61
    • Ashton, E.J.1    Yau, S.C.2    Deans, Z.C.3    Abbs, S.J.4
  • 18
    • 0034161603 scopus 로고    scopus 로고
    • + thalassemia alleles [4]
    • Shaji RV, Srivastava A, Chandy M, Krishnamoorthy R. A single tube multiplex PCR method to detect the common alpha + thalassemia alleles. Blood 2000;95:1879-80. (Pubitemid 30120860)
    • (2000) Blood , vol.95 , Issue.5 , pp. 1879-1880
    • Shaji, R.V.1    Srivastava, A.2    Chandy, M.3    Krishnamoorthy, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.