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Journal article

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Abstract:

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
Version:
Publisher's Version

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Publisher copy:
10.3324/haematol.2016.144063

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Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
More by this author
Department:
Oxford, MSD, NDM
More by this author
Department:
Oxford, MSD, NDM, Human Genetics Wt Centre
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National Institute for Health Research More from this funder
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:
1592-8721
ISSN:
0390-6078
Pubs id:
pubs:646013
URN:
uri:cb3a46c3-88bb-4966-863c-eb54cb2f9c7a
UUID:
uuid:cb3a46c3-88bb-4966-863c-eb54cb2f9c7a
Local pid:
pubs:646013

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