Target Enrichment and High-Throughput Sequencing of 80 Ribosomal Protein Genes to Identify Mutations Associated with Diamond-Blackfan Anaemia

被引:0
|
作者
Gerrard, Gareth [1 ]
Valganon, Mikel [2 ]
Foong, Hui En
Kasperaviciute, Dalia [3 ]
Mueller, Michael [3 ]
Game, Laurence [4 ]
Iskander, Deena [5 ]
Roberts, Irene [6 ]
Foroni, Letizia [7 ]
de la Fuente, Josu [8 ]
Karadimitris, Anastasios [5 ]
机构
[1] Univ London Imperial Coll Sci Technol & Med, Dept Haematol, London, England
[2] Imperial Mol Pathol, Haematol, London, England
[3] Univ London Imperial Coll Sci Technol & Med, Imperial NIHR Biomed Res Ctr, London, England
[4] Univ London Imperial Coll Sci Technol & Med, Ctr Clin Sci, Genom Lab, London, England
[5] Univ London Imperial Coll Sci Technol & Med, Div Haematol, London, England
[6] Univ London Imperial Coll Sci Technol & Med, Ctr Haematol, London, England
[7] Univ London Imperial Coll Sci Technol & Med, Imperial Mol Pathol, London, England
[8] Imperial Coll Healthcare NHS Trust, Div Paediat, London, England
关键词
D O I
10.1182/blood.V120.21.2369.2369
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
2369
引用
收藏
页数:2
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