Journal article
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations
- Abstract:
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Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have been identified as causes for erythrocytosis in genes belonging to different pathways including oxygen sensing, erythropoiesis and oxygen transport. However, despite clinical investigation and screening for these mutations, the cause of disease cannot be found in a considerable number of patients, who are classified as having idiopathic...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 3.1MB)
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- Publisher copy:
- 10.3324/haematol.2016.144063
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Authors
Funding
National Institute for Health Research
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Bibliographic Details
- Publisher:
- Ferrata Storti Foundation Publisher's website
- Journal:
- Haematologica Journal website
- Volume:
- 101
- Issue:
- 11
- Pages:
- 1306-1318
- Publication date:
- 2016-09-20
- Acceptance date:
- 2016-07-26
- DOI:
- EISSN:
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1592-8721
- ISSN:
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0390-6078
- Pmid:
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27651169
- Source identifiers:
-
646013
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:646013
- UUID:
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uuid:cb3a46c3-88bb-4966-863c-eb54cb2f9c7a
- Local pid:
- pubs:646013
- Deposit date:
- 2016-10-05
Terms of use
- Copyright holder:
- Copyright © 2016, Ferrata Storti Foundation
- Copyright date:
- 2016
- Notes:
- Copyright © 2016, Ferrata Storti Foundation. This is the publisher version of the article. The final version is available online from Ferrata Storti Foundation at: 10.3324/haematol.2016.144063
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