Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region

被引:6
|
作者
Amid, Ali [1 ]
Cheong, Melina [1 ]
Eng, Barry [2 ]
Hanna, Meredith [2 ]
Hohenadel, Betty-Ann [2 ]
Nakamura, Lisa M. [2 ]
Walker, Lynda [2 ]
Odame, Isaac [1 ]
Kirby-Allen, Melanie [1 ]
Waye, John S. [2 ,3 ]
机构
[1] Hosp Sick Children, Div Hematol Oncol, Toronto, ON M5G 1X8, Canada
[2] Hamilton Reg Lab Med Program, Hamilton, ON, Canada
[3] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON, Canada
关键词
novel deletion; locus control region; Hb S/beta(+)-thalassemia; DNase I hypersensitive sites; CELL-DISEASE; THALASSEMIA; HETEROZYGOSITY; PHENOTYPE;
D O I
10.3324/haematol.2014.117408
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页数:3
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  • [1] Compound Heterozygosity for Hb S and a Novel Deletion of Dnase I Hypersensitivity Sites HS3 and HS4 of β-Globin Locus Control Region Results in Hb S/β+-Thalassemia Phenotype
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    Bender, MA
    Roach, JN
    Halow, J
    Close, J
    Alami, R
    Bouhassira, EE
    Groudine, M
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    Guglielmi, L
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  • [4] Multiple hypersensitive sites comprise a functional "unit" for HS3 of the β-globin locus control region.
    Molete, J
    Petrykowska, H
    Bouhassira, E
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    Skarpidi, E
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    MOLECULAR AND CELLULAR BIOLOGY, 1998, 18 (07) : 4188 - 4196
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