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

来源：

BLOOD | 2012年 / 120卷 / 21期

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

页数：2

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