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

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 tra...

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Detaylı Bibliyografya
Yayımlandı:Haematologica
Asıl Yazarlar: Camps, Carme, Petousi, Nayia, Bento, Celeste, Cario, Holger, Copley, Richard R., McMullin, Mary Frances, van Wijk, Richard, Ratcliffe, Peter J., Robbins, Peter A., Taylor, Jenny C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Ferrata Storti Foundation 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5394871/
https://ncbi.nlm.nih.gov/pubmed/27651169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2016.144063
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