Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia-Reference-Cited by-同舟云学术

Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia

Published:2013-11-14 Issue:20 Volume:122 Page:3440-3449
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Dasouki Majed J.¹²,Rafi Syed K.³,Olm-Shipman Adam J.³,Wilson Nathan R.³,Abhyankar Sunil²,Ganter Brigitte⁴,Furness L. Mike⁴,Fang Jianwen⁵,Calado Rodrigo T.⁶,Saadi Irfan³

Affiliation:

1. Department of Pediatrics,

2. Department of Internal Medicine, and

3. Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS;

4. DNAnexus, Mountain View, CA;

5. Applied Bioinformatics Laboratory, University of Kansas, Lawrence, KS; and

6. Department of Internal Medicine, University of São Paulo at Ribeirão Preto Medical School, Ribeirão Preto, São Paulo, Brazil

Abstract

Key Points Recessive mutations in the thrombopoietin gene are a novel cause of aplastic anemia. Such patients may benefit from treatment with eltrombopag or romiplostim.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/122/20/3440/1371863/3440.pdf

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4. Human telomere disease due to disruption of the CCAAT box of the TERC promoter.;Aalbers;Blood,2012

5. Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.;Walne;Haematologica,2012

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