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Volumn 85, Issue 12, 2010, Pages 978-978

Annotation error of a common β°-thalassemia mutation (619 bp-deletion) has implications for molecular diagnosis

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN;

EID: 78649497607     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21875     Document Type: Letter
Times cited : (8)

References (10)
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    • Varawalla, N.Y.1    Old, J.M.2    Sarkar, R.3
  • 2
    • 0037305165 scopus 로고    scopus 로고
    • Multiplex minisequencing screen for common Southeast Asian and Indian beta-thalassemia mutations
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  • 3
    • 0019311488 scopus 로고
    • Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene
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    • (1980) Proc Natl Acad Sci USA , vol.77 , pp. 3558-3562
    • Orkin, S.H.1    Kolodner, R.2    Michelson, A.3    Husson, R.4
  • 4
    • 0018757198 scopus 로고
    • Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia
    • Orkin SH, Old JM, Weatherall DJ, Nathan DG. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci USA 1979; 76: 2400-2404.
    • (1979) Proc Natl Acad Sci USA , vol.76 , pp. 2400-2404
    • Orkin, S.H.1    Old, J.M.2    Weatherall, D.J.3    Nathan, D.G.4
  • 5
    • 0020488056 scopus 로고
    • Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene
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    • (1982) Nucleic Acids Res , vol.10 , pp. 8025-8029
    • Spritz, R.A.1    Orkin, S.H.2
  • 6
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    • A syllabus of thalassemia mutations
    • The Sickle Cell Anemia Foundation;, Augusta, GA,
    • Huisman T, Carver MFH, Baysal E. A syllabus of thalassemia mutations. The Sickle Cell Anemia Foundation; Augusta, GA, 1997.
    • (1997)
    • Huisman, T.1    Carver, M.F.H.2    Baysal, E.3
  • 7
    • 2442710217 scopus 로고    scopus 로고
    • Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns
    • Mitchell AA, Zwick ME, Chakravarti A, Cutler DJ. Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns. Bioinformatics 2004; 20: 1022-1032.
    • (2004) Bioinformatics , vol.20 , pp. 1022-1032
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  • 8
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    • Annotation error in public databases: misannotation of molecular function in enzyme superfamilies
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    • (2009) PLoS Comput Biol , vol.5
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  • 9
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    • Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.