Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia
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- Majed J. Dasouki
- Department of Pediatrics,
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- Syed K. Rafi
- Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS;
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- Adam J. Olm-Shipman
- Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS;
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- Nathan R. Wilson
- Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS;
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- Sunil Abhyankar
- Department of Internal Medicine, and
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- Brigitte Ganter
- DNAnexus, Mountain View, CA;
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- L. Mike Furness
- DNAnexus, Mountain View, CA;
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- Jianwen Fang
- Applied Bioinformatics Laboratory, University of Kansas, Lawrence, KS; and
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- Rodrigo T. Calado
- Department of Internal Medicine, University of São Paulo at Ribeirão Preto Medical School, Ribeirão Preto, São Paulo, Brazil
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- Irfan Saadi
- Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS;
書誌事項
- 公開日
- 2013-11-14
- DOI
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- 10.1182/blood-2012-12-473538
- 公開者
- American Society of Hematology
この論文をさがす
説明
<jats:title>Key Points</jats:title> <jats:p>Recessive mutations in the thrombopoietin gene are a novel cause of aplastic anemia. Such patients may benefit from treatment with eltrombopag or romiplostim.</jats:p>
収録刊行物
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- Blood
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Blood 122 (20), 3440-3449, 2013-11-14
American Society of Hematology