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Volumn 13, Issue 5, 2011, Pages 549-557

Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; HEMOGLOBIN H;

EID: 82755192077     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jmoldx.2011.04.001     Document Type: Article
Times cited : (23)

References (18)
  • 1
    • 77949465117 scopus 로고    scopus 로고
    • Alpha thalassemia major - New mutations, intrauterine management, and outcomes
    • Vichinsky EP: Alpha thalassemia major - new mutations, intrauterine management, and outcomes. Hematology Am Soc Hematol Educ Program 2009, 35-41
    • (2009) Hematology Am Soc Hematol Educ Program , pp. 35-41
    • Vichinsky, E.P.1
  • 2
    • 84932647459 scopus 로고    scopus 로고
    • Edited by Steinberg MH, Forget BG, Higgs DR, Weatherall DJ. New York, NY, Cambridge University Press
    • Higgs DR: Disorders of Hemoglobin. Edited by Steinberg MH, Forget BG, Higgs DR, Weatherall DJ. New York, NY, Cambridge University Press, 2009, pp. 239-320
    • (2009) Disorders of Hemoglobin , pp. 239-320
    • Higgs, D.R.1
  • 5
    • 33745148197 scopus 로고    scopus 로고
    • Processes of copy-number change in human DNA: The dynamics of {alpha}-globin gene deletion
    • Lam KW, Jeffreys AJ: Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. Proc Natl Acad Sci U S A 2006, 103:8921-8927
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 8921-8927
    • Lam, K.W.1    Jeffreys, A.J.2
  • 7
    • 7044235686 scopus 로고    scopus 로고
    • Analytical validation of the Tag-It high-throughput microsphere-based universal array genotyping platform: Application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms
    • DOI 10.1373/clinchem.2004.035071
    • Bortolin S, Black M, Modi H, Boszko I, Kobler D, Fieldhouse D, Lopes E, Lacroix JM, Grimwood R, Wells P, Janeczko R, Zastawny R: Analytical validation of the tag-it high-throughput microsphere-based universal array genotyping platform: application to the multiplex detection of a panel of thrombophilia-associated single-nucleotide polymorphisms. Clin Chem 2004, 50:2028-2036 (Pubitemid 39425839)
    • (2004) Clinical Chemistry , vol.50 , Issue.11 , pp. 2028-2036
    • Bortolin, S.1    Black, M.2    Modi, H.3    Boszko, I.4    Kobler, D.5    Fieldhouse, D.6    Lopes, E.7    Lacroix, J.-M.8    Grimwood, R.9    Wells, P.10    Janeczko, R.11    Zastawny, R.12
  • 9
    • 0035412399 scopus 로고    scopus 로고
    • A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia
    • Tan AS, Quah TC, Low PS, Chong SS: A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood 2001, 98:250-251
    • (2001) Blood , vol.98 , pp. 250-251
    • Tan, A.S.1    Quah, T.C.2    Low, P.S.3    Chong, S.S.4
  • 10
    • 29144480573 scopus 로고    scopus 로고
    • Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and alpha-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • DOI 10.1136/jmg.2005.033597
    • Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, den Dunnen JT, White SJ, Giordano PC: Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet 2005, 42:922-931 (Pubitemid 41811314)
    • (2005) Journal of Medical Genetics , vol.42 , Issue.12 , pp. 922-931
    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3    Akkermans, N.4    Den, D.J.T.5    White, S.J.6    Giordano, P.C.7
  • 11
    • 77955267950 scopus 로고    scopus 로고
    • Novel large deletions in the human alpha-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment
    • Coelho A, Picanco I, Seuanes F, Seixas MT, Faustino P: Novel large deletions in the human alpha-globin gene cluster: clarifying the HS-40 long-range regulatory role in the native chromosome environment. Blood Cells Mol Dis 2010, 45:147-153
    • (2010) Blood Cells Mol Dis , vol.45 , pp. 147-153
    • Coelho, A.1    Picanco, I.2    Seuanes, F.3    Seixas, M.T.4    Faustino, P.5
  • 16
    • 41949095010 scopus 로고    scopus 로고
    • Long-range regulation of alpha globin gene expression during erythropoiesis
    • DOI 10.1097/MOH.0b013e3282f734c4, PII 0006275220080500000005
    • Higgs DR, Wood WG: Long-range regulation of alpha globin gene expression during erythropoiesis. Curr Opin Hematol 2008, 15:176-183 (Pubitemid 351507568)
    • (2008) Current Opinion in Hematology , vol.15 , Issue.3 , pp. 176-183
    • Higgs, D.R.1    Wood, W.G.2
  • 18
    • 0017671144 scopus 로고
    • Identification of a nondeletion defect in alpha-thalassemia
    • Kan YW, Dozy AM, Trecartin R, Todd D: Identification of a nondeletion defect in alpha-thalassemia. N Engl J Med 1977, 297:1081-1084
    • (1977) N Engl J Med , vol.297 , pp. 1081-1084
    • Kan, Y.W.1    Dozy, A.M.2    Trecartin, R.3    Todd, D.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.