Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia-Reference-Cited by-同舟云学术

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia

Published:2020-03-09 Issue:5 Volume:4 Page:920-924
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Cornish Naomi¹,Aungraheeta M. Riyaad²,FitzGibbon Lucy²,Burley Kate²,Alibhai Dominic³,Collins Janine⁴^ORCID,Greene Daniel⁴⁵⁶,Downes Kate⁴⁶^ORCID,Westbury Sarah K.²,Turro Ernest⁴⁵⁶⁷^ORCID,Mumford Andrew D.²,

Affiliation:

1. Bristol Medical School,

2. School of Cellular and Molecular Medicine, and

3. Wolfson Bioimaging Facility, Faculty of Life Sciences, University of Bristol, Bristol, United Kingdom;

4. Department of Haematology, University of Cambridge, Cambridge, United Kingdom;

5. Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge, United Kingdom;

6. NIHR BioResource–Rare Diseases, Cambridge University Hospitals, Cambridge, United Kingdom; and

7. NHS Blood and Transplant, Cambridge Biomedical Campus, Cambridge, United Kingdom

Abstract

Key Points We report rare monoallelic variants of THPO that alter intracellular trafficking and diminish thrombopoietin secretion. Affected cases have autosomal-dominant thrombocytopenia but no other hematological features.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/4/5/920/1718305/advancesadv2019001293.pdf

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